Canonical Allele Identifier: CA4277096

Gene: ASL

Linked Data

• dbSNP Id: rs770619576
• ExAC: 7:65552726 T / C
• gnomAD v2: 7-65552726-T-C
• gnomAD v4: 7-66087739-T-C
• MyVariant Identifiers: chr7:g.65552726T>C (hg19) ; chr7:g.66087739T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66087739T>C , CM000669.2:g.66087739T>C	GRCh38
NC_000007.13:g.65552726T>C , CM000669.1:g.65552726T>C	GRCh37
NC_000007.12:g.65190161T>C	NCBI36
NG_009288.1:g.16951T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.666T>C MANE Select	ENSP00000307188.9:p.Phe222=
ENST00000362000.10:c.471T>C	ENSP00000354710.6:p.Phe157=
ENST00000380839.9:c.588T>C	ENSP00000370219.4:p.Phe196=
ENST00000395331.4:c.666T>C	ENSP00000378740.3:p.Phe222=
ENST00000395332.8:c.666T>C	ENSP00000378741.3:p.Phe222=
ENST00000671817.1:c.588T>C	ENSP00000500462.1:p.Phe196=
ENST00000672498.1:c.457T>C	ENSP00000500227.1:p.Trp153Arg
ENST00000672586.1:n.1425T>C
ENST00000672676.1:n.1690T>C
ENST00000673149.1:n.478T>C
ENST00000673350.1:n.1768T>C
ENST00000673518.1:c.588T>C	ENSP00000499889.1:p.Phe196=
ENST00000304874.13:c.666T>C	ENSP00000307188.9:p.Phe222=
ENST00000362000.9:c.471T>C	ENSP00000354710.5:p.Phe157=
ENST00000380839.8:c.588T>C	ENSP00000370219.4:p.Phe196=
ENST00000395331.3:c.666T>C	ENSP00000378740.3:p.Phe222=
ENST00000395332.7:c.666T>C	ENSP00000378741.3:p.Phe222=
ENST00000493708.5:n.47T>C
NM_000048.3:c.666T>C	NP_000039.2:p.Phe222=
NM_001024943.1:c.666T>C	NP_001020114.1:p.Phe222=
NM_001024944.1:c.666T>C	NP_001020115.1:p.Phe222=
NM_001024946.1:c.588T>C	NP_001020117.1:p.Phe196=
NM_000048.4:c.666T>C MANE Select	NP_000039.2:p.Phe222=
NM_001024943.2:c.666T>C	NP_001020114.1:p.Phe222=
NM_001024944.2:c.666T>C	NP_001020115.1:p.Phe222=
NM_001024946.2:c.588T>C	NP_001020117.1:p.Phe196=