Canonical Allele Identifier: CA10627374

Gene: ASAH1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18084159C>T , CM000670.2:g.18084159C>T	GRCh38
NC_000008.10:g.17941668C>T , CM000670.1:g.17941668C>T	GRCh37
NC_000008.9:g.17985948C>T	NCBI36
NG_008985.1:g.5840G>A
NG_008985.2:g.5840G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.126+517G>A	ENSP00000371152.4:n.126+517G>A
ENST00000520051.2:c.*124G>A	ENSP00000490132.1:n.*124G>A
ENST00000636050.1:c.215+428G>A	ENSP00000490562.1:n.215+428G>A
ENST00000636299.1:c.126+517G>A	ENSP00000490202.1:n.126+517G>A
ENST00000636455.1:c.126+517G>A	ENSP00000490502.1:n.126+517G>A
ENST00000636537.1:c.126+517G>A	ENSP00000489914.1:n.126+517G>A
ENST00000636715.1:c.126+517G>A	ENSP00000490876.1:n.126+517G>A
ENST00000636828.1:n.254+517G>A
ENST00000637013.1:c.*290+128G>A	ENSP00000490596.1:n.*290+128G>A
ENST00000637244.1:c.*418G>A	ENSP00000490188.1:n.*418G>A
ENST00000637429.1:c.*290+128G>A	ENSP00000490522.1:n.*290+128G>A
ENST00000637484.1:c.*115+303G>A	ENSP00000490837.1:n.*115+303G>A
ENST00000637536.1:c.254G>A	ENSP00000490464.1:p.Gly85Asp
ENST00000637636.1:c.-101G>A	ENSP00000490112.1:n.-101G>A
ENST00000637792.1:c.126+517G>A	ENSP00000490423.1:n.126+517G>A
ENST00000637805.1:c.130+513G>A	ENSP00000489884.1:n.130+513G>A
ENST00000637946.1:c.*290+128G>A	ENSP00000490025.1:n.*290+128G>A
ENST00000637991.1:c.126+517G>A	ENSP00000489901.1:n.126+517G>A
ENST00000262097.10:c.-101G>A	ENSP00000262097.6:n.-101G>A
ENST00000314146.10:c.126+517G>A	ENSP00000326970.10:n.126+517G>A
ENST00000381733.8:c.126+517G>A	ENSP00000371152.4:n.126+517G>A
ENST00000520051.1:n.486G>A
ENST00000520781.5:c.-101G>A	ENSP00000427751.1:n.-101G>A
NM_001127505.1:c.126+517G>A	NP_001120977.1:n.126+517G>A
NM_001127505.2:c.126+517G>A	NP_001120977.1:n.126+517G>A
NM_004315.4:c.126+517G>A	NP_004306.3:n.126+517G>A
NM_004315.5:c.126+517G>A	NP_004306.3:n.126+517G>A
NM_177924.3:c.-101G>A	NP_808592.2:n.-101G>A
NM_177924.4:c.-101G>A	NP_808592.2:n.-101G>A
NM_001127505.3:c.126+517G>A	NP_001120977.1:n.126+517G>A
NM_004315.6:c.126+517G>A	NP_004306.3:n.126+517G>A