Canonical Allele Identifier: CA2686314874

Gene: ASAH1

Linked Data

• gnomAD v4: 8-18061195-C-CTA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061198_18061199dup , CM000670.2:g.18061198_18061199dup	GRCh38
NC_000008.10:g.17918707_17918708dup , CM000670.1:g.17918707_17918708dup	GRCh37
NC_000008.9:g.17962987_17962988dup	NCBI36
NG_008985.1:g.28802_28803dup
NG_008985.2:g.28802_28803dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.833+180_833+181dup	ENSP00000371152.4:n.833+180_833+181dup
ENST00000518746.2:n.2471+180_2471+181dup
ENST00000520781.6:c.710+180_710+181dup	ENSP00000427751.1:n.710+180_710+181dup
ENST00000521542.2:n.273_274dup
ENST00000635756.1:c.198+180_198+181dup
ENST00000635944.1:c.*621+180_*621+181dup	ENSP00000490195.1:n.*621+180_*621+181dup
ENST00000635998.1:c.785+180_785+181dup	ENSP00000490506.1:n.785+180_785+181dup
ENST00000636009.1:c.642+180_642+181dup	ENSP00000489988.1:n.642+180_642+181dup
ENST00000636033.1:c.*621+180_*621+181dup	ENSP00000489617.1:n.*621+180_*621+181dup
ENST00000636050.1:c.*628+180_*628+181dup	ENSP00000490562.1:n.*628+180_*628+181dup
ENST00000636128.1:c.464+180_464+181dup	ENSP00000489789.1:n.464+180_464+181dup
ENST00000636160.1:c.*677+180_*677+181dup	ENSP00000489651.1:n.*677+180_*677+181dup
ENST00000636171.1:c.728+180_728+181dup	ENSP00000489761.1:n.728+180_728+181dup
ENST00000636455.1:c.833+180_833+181dup	ENSP00000490502.1:n.833+180_833+181dup
ENST00000636494.1:c.*565+180_*565+181dup	ENSP00000490388.1:n.*565+180_*565+181dup
ENST00000636563.1:n.447+180_447+181dup
ENST00000636577.1:c.725+180_725+181dup	ENSP00000490027.1:n.725+180_725+181dup
ENST00000636691.1:c.590+180_590+181dup	ENSP00000490725.1:n.590+180_590+181dup
ENST00000636701.1:c.*436+180_*436+181dup	ENSP00000489800.1:n.*436+180_*436+181dup
ENST00000636815.1:c.702+180_702+181dup
ENST00000636920.1:c.*621+180_*621+181dup	ENSP00000490437.1:n.*621+180_*621+181dup
ENST00000636997.1:c.698+180_698+181dup	ENSP00000490093.1:n.698+180_698+181dup
ENST00000637013.1:c.*1153+180_*1153+181dup	ENSP00000490596.1:n.*1153+180_*1153+181dup
ENST00000637014.1:n.1192+180_1192+181dup
ENST00000637095.1:c.*565+180_*565+181dup	ENSP00000490415.1:n.*565+180_*565+181dup
ENST00000637244.1:c.*1303+180_*1303+181dup	ENSP00000490188.1:n.*1303+180_*1303+181dup
ENST00000637343.1:n.2222+180_2222+181dup
ENST00000637429.1:c.*997+180_*997+181dup	ENSP00000490522.1:n.*997+180_*997+181dup
ENST00000637484.1:c.*747+180_*747+181dup	ENSP00000490837.1:n.*747+180_*747+181dup
ENST00000637528.1:c.722+180_722+181dup	ENSP00000490801.1:n.722+180_722+181dup
ENST00000637609.1:n.3506+180_3506+181dup
ENST00000637636.1:c.779+180_779+181dup	ENSP00000490112.1:n.779+180_779+181dup
ENST00000637790.2:c.785+180_785+181dup MANE Select	ENSP00000490272.1:n.785+180_785+181dup
ENST00000637857.1:n.1151+180_1151+181dup
ENST00000637922.1:c.590+180_590+181dup	ENSP00000490071.1:n.590+180_590+181dup
ENST00000637991.1:c.758+180_758+181dup	ENSP00000489901.1:n.758+180_758+181dup
ENST00000638028.1:n.1002+180_1002+181dup
ENST00000638069.1:n.1606+180_1606+181dup
ENST00000262097.10:c.785+180_785+181dup	ENSP00000262097.6:n.785+180_785+181dup
ENST00000314146.10:c.767+180_767+181dup	ENSP00000326970.10:n.767+180_767+181dup
ENST00000381733.8:c.833+180_833+181dup	ENSP00000371152.4:n.833+180_833+181dup
ENST00000519468.5:n.614+180_614+181dup
ENST00000520781.5:c.710+180_710+181dup	ENSP00000427751.1:n.710+180_710+181dup
ENST00000521542.1:n.498+180_498+181dup
NM_001127505.1:c.767+180_767+181dup	NP_001120977.1:n.767+180_767+181dup
NM_001127505.2:c.767+180_767+181dup	NP_001120977.1:n.767+180_767+181dup
NM_004315.4:c.833+180_833+181dup	NP_004306.3:n.833+180_833+181dup
NM_004315.5:c.833+180_833+181dup	NP_004306.3:n.833+180_833+181dup
NM_177924.3:c.785+180_785+181dup	NP_808592.2:n.785+180_785+181dup
NM_177924.4:c.785+180_785+181dup	NP_808592.2:n.785+180_785+181dup
XM_005273504.2:c.719+180_719+181dup	XP_005273561.1:n.719+180_719+181dup
NM_001363743.1:c.590+180_590+181dup	NP_001350672.1:n.590+180_590+181dup
XM_005273504.3:c.719+180_719+181dup	XP_005273561.1:n.719+180_719+181dup
NM_177924.5:c.785+180_785+181dup MANE Select	NP_808592.2:n.785+180_785+181dup
NM_001127505.3:c.767+180_767+181dup	NP_001120977.1:n.767+180_767+181dup
NM_001363743.2:c.590+180_590+181dup	NP_001350672.1:n.590+180_590+181dup
NM_004315.6:c.833+180_833+181dup	NP_004306.3:n.833+180_833+181dup