Canonical Allele Identifier: CA367645331

Gene: ASL

Linked Data

• dbSNP Id: rs796145445
• gnomAD v3: 7-66088915-C-T
• gnomAD v4: 7-66088915-C-T
• MyVariant Identifiers: chr7:g.65553902C>T (hg19) ; chr7:g.66088915C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66088915C>T , CM000669.2:g.66088915C>T	GRCh38
NC_000007.13:g.65553902C>T , CM000669.1:g.65553902C>T	GRCh37
NC_000007.12:g.65191337C>T	NCBI36
NG_009288.1:g.18127C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.827C>T MANE Select	ENSP00000307188.9:p.Ala276Val
ENST00000362000.10:c.632C>T	ENSP00000354710.6:p.Ala211Val
ENST00000380839.9:c.749C>T	ENSP00000370219.4:p.Ala250Val
ENST00000395331.4:c.827C>T	ENSP00000378740.3:p.Ala276Val
ENST00000395332.8:c.827C>T	ENSP00000378741.3:p.Ala276Val
ENST00000671817.1:c.749C>T	ENSP00000500462.1:p.Ala250Val
ENST00000672498.1:c.*126C>T	ENSP00000500227.1:n.*126C>T
ENST00000672586.1:n.1586C>T
ENST00000672676.1:n.1851C>T
ENST00000673149.1:n.639C>T
ENST00000673350.1:n.2944C>T
ENST00000673518.1:c.749C>T	ENSP00000499889.1:p.Ala250Val
ENST00000304874.13:c.827C>T	ENSP00000307188.9:p.Ala276Val
ENST00000362000.9:c.632C>T	ENSP00000354710.5:p.Ala211Val
ENST00000380839.8:c.749C>T	ENSP00000370219.4:p.Ala250Val
ENST00000395331.3:c.827C>T	ENSP00000378740.3:p.Ala276Val
ENST00000395332.7:c.827C>T	ENSP00000378741.3:p.Ala276Val
ENST00000450043.2:c.140C>T	ENSP00000396527.2:p.Ala47Val
ENST00000493708.5:n.208C>T
NM_000048.3:c.827C>T	NP_000039.2:p.Ala276Val
NM_001024943.1:c.827C>T	NP_001020114.1:p.Ala276Val
NM_001024944.1:c.827C>T	NP_001020115.1:p.Ala276Val
NM_001024946.1:c.749C>T	NP_001020117.1:p.Ala250Val
NM_000048.4:c.827C>T MANE Select	NP_000039.2:p.Ala276Val
NM_001024943.2:c.827C>T	NP_001020114.1:p.Ala276Val
NM_001024944.2:c.827C>T	NP_001020115.1:p.Ala276Val
NM_001024946.2:c.749C>T	NP_001020117.1:p.Ala250Val