Canonical Allele Identifier: CA4650694
Gene: ASAH1 HGNC NCBI

Identifiers and link-outs to other resources

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
NM_001127505.1:c.719T>C VV NP_001120977.1:p.Val240Ala
NM_001127505.2:c.719T>C VV NP_001120977.1:p.Val240Ala
NM_004315.4:c.785T>C VV NP_004306.3:p.Val262Ala
NM_004315.5:c.785T>C VV NP_004306.3:p.Val262Ala
NM_177924.3:c.737T>C VV NP_808592.2:p.Val246Ala
NM_177924.4:c.737T>C VV NP_808592.2:p.Val246Ala
XM_005273504.2:c.671T>C XP_005273561.1:p.Val224Ala
NM_001363743.1:c.542T>C VV NP_001350672.1:p.Val181Ala
XM_005273504.3:c.671T>C XP_005273561.1:p.Val224Ala
NM_177924.5:c.737T>C VV MANE Preferred NP_808592.2:p.Val246Ala
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