Canonical Allele Identifier: CA1111403187
Gene: ASAH1 HGNC NCBI

Linked Data

dbSNP Id: rs1799687874

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18061313_18061326dup , CM000670.2:g.18061313_18061326dup GRCh38
NC_000008.10:g.17918822_17918835dup , CM000670.1:g.17918822_17918835dup GRCh37
NC_000008.9:g.17963102_17963115dup NCBI36
NG_008985.1:g.28675_28688dup
NG_008985.2:g.28675_28688dup

Transcript Alleles

HGVS Amino-acid change
ENST00000381733.9:c.833+53_833+66dup ENSP00000371152.4:n.833+53_833+66dup
ENST00000518746.2:n.2471+53_2471+66dup
ENST00000520781.6:c.710+53_710+66dup ENSP00000427751.1:n.710+53_710+66dup
ENST00000521542.2:n.146_159dup
ENST00000635756.1:c.198+53_198+66dup
ENST00000635944.1:c.*621+53_*621+66dup ENSP00000490195.1:n.*621+53_*621+66dup
ENST00000635998.1:c.785+53_785+66dup ENSP00000490506.1:n.785+53_785+66dup
ENST00000636009.1:c.642+53_642+66dup ENSP00000489988.1:n.642+53_642+66dup
ENST00000636033.1:c.*621+53_*621+66dup ENSP00000489617.1:n.*621+53_*621+66dup
ENST00000636050.1:c.*628+53_*628+66dup ENSP00000490562.1:n.*628+53_*628+66dup
ENST00000636128.1:c.464+53_464+66dup ENSP00000489789.1:n.464+53_464+66dup
ENST00000636160.1:c.*677+53_*677+66dup ENSP00000489651.1:n.*677+53_*677+66dup
ENST00000636171.1:c.728+53_728+66dup ENSP00000489761.1:n.728+53_728+66dup
ENST00000636455.1:c.833+53_833+66dup ENSP00000490502.1:n.833+53_833+66dup
ENST00000636494.1:c.*565+53_*565+66dup ENSP00000490388.1:n.*565+53_*565+66dup
ENST00000636563.1:n.447+53_447+66dup
ENST00000636577.1:c.725+53_725+66dup ENSP00000490027.1:n.725+53_725+66dup
ENST00000636691.1:c.590+53_590+66dup ENSP00000490725.1:n.590+53_590+66dup
ENST00000636701.1:c.*436+53_*436+66dup ENSP00000489800.1:n.*436+53_*436+66dup
ENST00000636815.1:c.702+53_702+66dup
ENST00000636920.1:c.*621+53_*621+66dup ENSP00000490437.1:n.*621+53_*621+66dup
ENST00000636997.1:c.698+53_698+66dup ENSP00000490093.1:n.698+53_698+66dup
ENST00000637013.1:c.*1153+53_*1153+66dup ENSP00000490596.1:n.*1153+53_*1153+66dup
ENST00000637014.1:n.1192+53_1192+66dup
ENST00000637095.1:c.*565+53_*565+66dup ENSP00000490415.1:n.*565+53_*565+66dup
ENST00000637244.1:c.*1303+53_*1303+66dup ENSP00000490188.1:n.*1303+53_*1303+66dup
ENST00000637343.1:n.2222+53_2222+66dup
ENST00000637429.1:c.*997+53_*997+66dup ENSP00000490522.1:n.*997+53_*997+66dup
ENST00000637484.1:c.*747+53_*747+66dup ENSP00000490837.1:n.*747+53_*747+66dup
ENST00000637528.1:c.722+53_722+66dup ENSP00000490801.1:n.722+53_722+66dup
ENST00000637609.1:n.3506+53_3506+66dup
ENST00000637636.1:c.779+53_779+66dup ENSP00000490112.1:n.779+53_779+66dup
ENST00000637790.2:c.785+53_785+66dup MANE Select ENSP00000490272.1:n.785+53_785+66dup
ENST00000637857.1:n.1151+53_1151+66dup
ENST00000637922.1:c.590+53_590+66dup ENSP00000490071.1:n.590+53_590+66dup
ENST00000637991.1:c.758+53_758+66dup ENSP00000489901.1:n.758+53_758+66dup
ENST00000638028.1:n.1002+53_1002+66dup
ENST00000638069.1:n.1606+53_1606+66dup
ENST00000262097.10:c.785+53_785+66dup ENSP00000262097.6:n.785+53_785+66dup
ENST00000314146.10:c.767+53_767+66dup ENSP00000326970.10:n.767+53_767+66dup
ENST00000381733.8:c.833+53_833+66dup ENSP00000371152.4:n.833+53_833+66dup
ENST00000519468.5:n.614+53_614+66dup
ENST00000520781.5:c.710+53_710+66dup ENSP00000427751.1:n.710+53_710+66dup
ENST00000521542.1:n.498+53_498+66dup
NM_001127505.1:c.767+53_767+66dup NP_001120977.1:n.767+53_767+66dup
NM_001127505.2:c.767+53_767+66dup NP_001120977.1:n.767+53_767+66dup
NM_004315.4:c.833+53_833+66dup NP_004306.3:n.833+53_833+66dup
NM_004315.5:c.833+53_833+66dup NP_004306.3:n.833+53_833+66dup
NM_177924.3:c.785+53_785+66dup NP_808592.2:n.785+53_785+66dup
NM_177924.4:c.785+53_785+66dup NP_808592.2:n.785+53_785+66dup
XM_005273504.2:c.719+53_719+66dup XP_005273561.1:n.719+53_719+66dup
NM_001363743.1:c.590+53_590+66dup NP_001350672.1:n.590+53_590+66dup
XM_005273504.3:c.719+53_719+66dup XP_005273561.1:n.719+53_719+66dup
NM_177924.5:c.785+53_785+66dup MANE Select NP_808592.2:n.785+53_785+66dup
NM_001127505.3:c.767+53_767+66dup NP_001120977.1:n.767+53_767+66dup
NM_001363743.2:c.590+53_590+66dup NP_001350672.1:n.590+53_590+66dup
NM_004315.6:c.833+53_833+66dup NP_004306.3:n.833+53_833+66dup