Canonical Allele Identifier: CA2579103496

Gene: ASAH1

Linked Data

• dbSNP Id: rs2117024595
• gnomAD v4: 8-18061329-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061329G>A , CM000670.2:g.18061329G>A	GRCh38
NC_000008.10:g.17918838G>A , CM000670.1:g.17918838G>A	GRCh37
NC_000008.9:g.17963118G>A	NCBI36
NG_008985.1:g.28670C>T
NG_008985.2:g.28670C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.833+48C>T	ENSP00000371152.4:n.833+48C>T
ENST00000518746.2:n.2471+48C>T
ENST00000520781.6:c.710+48C>T	ENSP00000427751.1:n.710+48C>T
ENST00000521542.2:n.141C>T
ENST00000635756.1:c.198+48C>T
ENST00000635944.1:c.*621+48C>T	ENSP00000490195.1:n.*621+48C>T
ENST00000635998.1:c.785+48C>T	ENSP00000490506.1:n.785+48C>T
ENST00000636009.1:c.642+48C>T	ENSP00000489988.1:n.642+48C>T
ENST00000636033.1:c.*621+48C>T	ENSP00000489617.1:n.*621+48C>T
ENST00000636050.1:c.*628+48C>T	ENSP00000490562.1:n.*628+48C>T
ENST00000636128.1:c.464+48C>T	ENSP00000489789.1:n.464+48C>T
ENST00000636160.1:c.*677+48C>T	ENSP00000489651.1:n.*677+48C>T
ENST00000636171.1:c.728+48C>T	ENSP00000489761.1:n.728+48C>T
ENST00000636455.1:c.833+48C>T	ENSP00000490502.1:n.833+48C>T
ENST00000636494.1:c.*565+48C>T	ENSP00000490388.1:n.*565+48C>T
ENST00000636563.1:n.447+48C>T
ENST00000636577.1:c.725+48C>T	ENSP00000490027.1:n.725+48C>T
ENST00000636691.1:c.590+48C>T	ENSP00000490725.1:n.590+48C>T
ENST00000636701.1:c.*436+48C>T	ENSP00000489800.1:n.*436+48C>T
ENST00000636815.1:c.702+48C>T
ENST00000636920.1:c.*621+48C>T	ENSP00000490437.1:n.*621+48C>T
ENST00000636997.1:c.698+48C>T	ENSP00000490093.1:n.698+48C>T
ENST00000637013.1:c.*1153+48C>T	ENSP00000490596.1:n.*1153+48C>T
ENST00000637014.1:n.1192+48C>T
ENST00000637095.1:c.*565+48C>T	ENSP00000490415.1:n.*565+48C>T
ENST00000637244.1:c.*1303+48C>T	ENSP00000490188.1:n.*1303+48C>T
ENST00000637343.1:n.2222+48C>T
ENST00000637429.1:c.*997+48C>T	ENSP00000490522.1:n.*997+48C>T
ENST00000637484.1:c.*747+48C>T	ENSP00000490837.1:n.*747+48C>T
ENST00000637528.1:c.722+48C>T	ENSP00000490801.1:n.722+48C>T
ENST00000637609.1:n.3506+48C>T
ENST00000637636.1:c.779+48C>T	ENSP00000490112.1:n.779+48C>T
ENST00000637790.2:c.785+48C>T MANE Select	ENSP00000490272.1:n.785+48C>T
ENST00000637857.1:n.1151+48C>T
ENST00000637922.1:c.590+48C>T	ENSP00000490071.1:n.590+48C>T
ENST00000637991.1:c.758+48C>T	ENSP00000489901.1:n.758+48C>T
ENST00000638028.1:n.1002+48C>T
ENST00000638069.1:n.1606+48C>T
ENST00000262097.10:c.785+48C>T	ENSP00000262097.6:n.785+48C>T
ENST00000314146.10:c.767+48C>T	ENSP00000326970.10:n.767+48C>T
ENST00000381733.8:c.833+48C>T	ENSP00000371152.4:n.833+48C>T
ENST00000519468.5:n.614+48C>T
ENST00000520781.5:c.710+48C>T	ENSP00000427751.1:n.710+48C>T
ENST00000521542.1:n.498+48C>T
NM_001127505.1:c.767+48C>T	NP_001120977.1:n.767+48C>T
NM_001127505.2:c.767+48C>T	NP_001120977.1:n.767+48C>T
NM_004315.4:c.833+48C>T	NP_004306.3:n.833+48C>T
NM_004315.5:c.833+48C>T	NP_004306.3:n.833+48C>T
NM_177924.3:c.785+48C>T	NP_808592.2:n.785+48C>T
NM_177924.4:c.785+48C>T	NP_808592.2:n.785+48C>T
XM_005273504.2:c.719+48C>T	XP_005273561.1:n.719+48C>T
NM_001363743.1:c.590+48C>T	NP_001350672.1:n.590+48C>T
XM_005273504.3:c.719+48C>T	XP_005273561.1:n.719+48C>T
NM_177924.5:c.785+48C>T MANE Select	NP_808592.2:n.785+48C>T
NM_001127505.3:c.767+48C>T	NP_001120977.1:n.767+48C>T
NM_001363743.2:c.590+48C>T	NP_001350672.1:n.590+48C>T
NM_004315.6:c.833+48C>T	NP_004306.3:n.833+48C>T