Canonical Allele Identifier: CA4650694
Gene: ASAH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 259283
dbSNP Id: rs10103355

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18061425A>G , CM000670.2:g.18061425A>G GRCh38
NC_000008.10:g.17918934A>G , CM000670.1:g.17918934A>G GRCh37
NC_000008.9:g.17963214A>G NCBI36
NG_008985.1:g.28574T>C
NG_008985.2:g.28574T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000381733.9:c.785T>C ENSP00000371152.4:p.Val262Ala
ENST00000517409.2:n.705T>C
ENST00000518746.2:n.2423T>C
ENST00000519545.6:n.754T>C
ENST00000520781.6:c.662T>C ENSP00000427751.1:p.Val221Ala
ENST00000521542.2:n.45T>C
ENST00000635756.1:n.150T>C
ENST00000635944.1:c.*573T>C ENSP00000490195.1:p.=
ENST00000635998.1:c.737T>C ENSP00000490506.1:p.Val246Ala
ENST00000636009.1:n.594T>C ENSP00000489988.1:p.=
ENST00000636033.1:c.*573T>C ENSP00000489617.1:p.=
ENST00000636050.1:c.*580T>C ENSP00000490562.1:p.=
ENST00000636128.1:c.416T>C ENSP00000489789.1:p.Val139Ala
ENST00000636160.1:c.*629T>C ENSP00000489651.1:p.=
ENST00000636171.1:c.680T>C ENSP00000489761.1:p.Val227Ala
ENST00000636455.1:c.785T>C ENSP00000490502.1:p.Val262Ala
ENST00000636494.1:c.*517T>C ENSP00000490388.1:p.=
ENST00000636563.1:n.399T>C
ENST00000636577.1:c.677T>C ENSP00000490027.1:p.Val226Ala
ENST00000636691.1:c.542T>C ENSP00000490725.1:p.Val181Ala
ENST00000636701.1:c.*388T>C ENSP00000489800.1:p.=
ENST00000636815.1:n.654T>C
ENST00000636920.1:c.*573T>C ENSP00000490437.1:p.=
ENST00000636997.1:c.650T>C ENSP00000490093.1:p.Val217Ala
ENST00000637013.1:c.*1105T>C ENSP00000490596.1:p.=
ENST00000637014.1:n.1144T>C
ENST00000637095.1:c.*517T>C ENSP00000490415.1:p.=
ENST00000637244.1:c.*1255T>C ENSP00000490188.1:p.=
ENST00000637343.1:n.2174T>C
ENST00000637429.1:c.*949T>C ENSP00000490522.1:p.=
ENST00000637484.1:c.*699T>C ENSP00000490837.1:p.=
ENST00000637528.1:c.674T>C ENSP00000490801.1:p.Val225Ala
ENST00000637609.1:n.3458T>C
ENST00000637636.1:c.731T>C ENSP00000490112.1:p.Val244Ala
ENST00000637790.2:c.737T>C MANE Select ENSP00000490272.1:p.Val246Ala
ENST00000637857.1:n.1103T>C
ENST00000637922.1:c.542T>C ENSP00000490071.1:p.Val181Ala
ENST00000637991.1:c.710T>C ENSP00000489901.1:p.Val237Ala
ENST00000638028.1:n.954T>C
ENST00000638069.1:n.1558T>C
ENST00000262097.10:c.737T>C ENSP00000262097.6:p.Val246Ala
ENST00000314146.10:c.719T>C ENSP00000326970.10:p.Val240Ala
ENST00000381733.8:c.785T>C ENSP00000371152.4:p.Val262Ala
ENST00000518746.1:n.554T>C
ENST00000519468.5:n.566T>C
ENST00000520781.5:c.662T>C ENSP00000427751.1:p.Val221Ala
ENST00000521542.1:n.450T>C
NM_001127505.1:c.719T>C NP_001120977.1:p.Val240Ala
NM_001127505.2:c.719T>C NP_001120977.1:p.Val240Ala
NM_004315.4:c.785T>C NP_004306.3:p.Val262Ala
NM_004315.5:c.785T>C NP_004306.3:p.Val262Ala
NM_177924.3:c.737T>C NP_808592.2:p.Val246Ala
NM_177924.4:c.737T>C NP_808592.2:p.Val246Ala
XM_005273504.2:c.671T>C XP_005273561.1:p.Val224Ala
NM_001363743.1:c.542T>C NP_001350672.1:p.Val181Ala
XM_005273504.3:c.671T>C XP_005273561.1:p.Val224Ala
NM_177924.5:c.737T>C MANE Select NP_808592.2:p.Val246Ala
NM_001127505.3:c.719T>C NP_001120977.1:p.Val240Ala
NM_001363743.2:c.542T>C NP_001350672.1:p.Val181Ala
NM_004315.6:c.785T>C NP_004306.3:p.Val262Ala