Canonical Allele Identifier: CA580091048
Gene: ASAH1 HGNC NCBI

Linked Data

dbSNP Id: rs1564537319

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18061429dup , CM000670.2:g.18061429dup GRCh38
NC_000008.10:g.17918938dup , CM000670.1:g.17918938dup GRCh37
NC_000008.9:g.17963218dup NCBI36
NG_008985.1:g.28570dup
NG_008985.2:g.28570dup

Transcript Alleles

HGVS Amino-acid change
ENST00000381733.9:c.781dup ENSP00000371152.4:p.Asp261GlyfsTer10
ENST00000517409.2:n.701dup
ENST00000518746.2:n.2419dup
ENST00000519545.6:n.750dup
ENST00000520781.6:c.658dup ENSP00000427751.1:p.Asp220GlyfsTer10
ENST00000521542.2:n.41dup
ENST00000635756.1:c.146dup
ENST00000635944.1:c.*569dup ENSP00000490195.1:n.*569dup
ENST00000635998.1:c.733dup ENSP00000490506.1:p.Asp245GlyfsTer10
ENST00000636009.1:c.590dup ENSP00000489988.1:n.590dup
ENST00000636033.1:c.*569dup ENSP00000489617.1:n.*569dup
ENST00000636050.1:c.*576dup ENSP00000490562.1:n.*576dup
ENST00000636128.1:c.412dup ENSP00000489789.1:p.Asp138GlyfsTer10
ENST00000636160.1:c.*625dup ENSP00000489651.1:n.*625dup
ENST00000636171.1:c.676dup ENSP00000489761.1:p.Asp226GlyfsTer10
ENST00000636455.1:c.781dup ENSP00000490502.1:p.Asp261GlyfsTer10
ENST00000636494.1:c.*513dup ENSP00000490388.1:n.*513dup
ENST00000636563.1:n.395dup
ENST00000636577.1:c.673dup ENSP00000490027.1:p.Asp225GlyfsTer10
ENST00000636691.1:c.538dup ENSP00000490725.1:p.Asp180GlyfsTer10
ENST00000636701.1:c.*384dup ENSP00000489800.1:n.*384dup
ENST00000636815.1:c.650dup
ENST00000636920.1:c.*569dup ENSP00000490437.1:n.*569dup
ENST00000636997.1:c.646dup ENSP00000490093.1:p.Asp216GlyfsTer10
ENST00000637013.1:c.*1101dup ENSP00000490596.1:n.*1101dup
ENST00000637014.1:n.1140dup
ENST00000637095.1:c.*513dup ENSP00000490415.1:n.*513dup
ENST00000637244.1:c.*1251dup ENSP00000490188.1:n.*1251dup
ENST00000637343.1:n.2170dup
ENST00000637429.1:c.*945dup ENSP00000490522.1:n.*945dup
ENST00000637484.1:c.*695dup ENSP00000490837.1:n.*695dup
ENST00000637528.1:c.670dup ENSP00000490801.1:p.Asp224GlyfsTer10
ENST00000637609.1:n.3454dup
ENST00000637636.1:c.727dup ENSP00000490112.1:p.Asp243GlyfsTer10
ENST00000637790.2:c.733dup MANE Select ENSP00000490272.1:p.Asp245GlyfsTer10
ENST00000637857.1:n.1099dup
ENST00000637922.1:c.538dup ENSP00000490071.1:p.Asp180GlyfsTer10
ENST00000637991.1:c.706dup ENSP00000489901.1:p.Asp236GlyfsTer10
ENST00000638028.1:n.950dup
ENST00000638069.1:n.1554dup
ENST00000262097.10:c.733dup ENSP00000262097.6:p.Asp245GlyfsTer10
ENST00000314146.10:c.715dup ENSP00000326970.10:p.Asp239GlyfsTer10
ENST00000381733.8:c.781dup ENSP00000371152.4:p.Asp261GlyfsTer10
ENST00000518746.1:n.550dup
ENST00000519468.5:n.562dup
ENST00000520781.5:c.658dup ENSP00000427751.1:p.Asp220GlyfsTer10
ENST00000521542.1:n.446dup
NM_001127505.1:c.715dup NP_001120977.1:p.Asp239GlyfsTer10
NM_001127505.2:c.715dup NP_001120977.1:p.Asp239GlyfsTer10
NM_004315.4:c.781dup NP_004306.3:p.Asp261GlyfsTer10
NM_004315.5:c.781dup NP_004306.3:p.Asp261GlyfsTer10
NM_177924.3:c.733dup NP_808592.2:p.Asp245GlyfsTer10
NM_177924.4:c.733dup NP_808592.2:p.Asp245GlyfsTer10
XM_005273504.2:c.667dup XP_005273561.1:p.Asp223GlyfsTer10
NM_001363743.1:c.538dup NP_001350672.1:p.Asp180GlyfsTer10
XM_005273504.3:c.667dup XP_005273561.1:p.Asp223GlyfsTer10
NM_177924.5:c.733dup MANE Select NP_808592.2:p.Asp245GlyfsTer10
NM_001127505.3:c.715dup NP_001120977.1:p.Asp239GlyfsTer10
NM_001363743.2:c.538dup NP_001350672.1:p.Asp180GlyfsTer10
NM_004315.6:c.781dup NP_004306.3:p.Asp261GlyfsTer10