Canonical Allele Identifier: CA2683085823

Gene: ASL

Linked Data

• gnomAD v4: 7-66087403-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66087403C>T , CM000669.2:g.66087403C>T	GRCh38
NC_000007.13:g.65552390C>T , CM000669.1:g.65552390C>T	GRCh37
NC_000007.12:g.65189825C>T	NCBI36
NG_009288.1:g.16615C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.655+17C>T MANE Select	ENSP00000307188.9:n.655+17C>T
ENST00000362000.10:c.460+17C>T	ENSP00000354710.6:n.460+17C>T
ENST00000380839.9:c.577+17C>T	ENSP00000370219.4:n.577+17C>T
ENST00000395331.4:c.655+17C>T	ENSP00000378740.3:n.655+17C>T
ENST00000395332.8:c.655+17C>T	ENSP00000378741.3:n.655+17C>T
ENST00000671817.1:c.577+17C>T	ENSP00000500462.1:n.577+17C>T
ENST00000672498.1:c.447-326C>T	ENSP00000500227.1:n.447-326C>T
ENST00000672586.1:n.1089C>T
ENST00000672676.1:n.1354C>T
ENST00000673149.1:n.467+17C>T
ENST00000673350.1:n.1432C>T
ENST00000673518.1:c.577+17C>T	ENSP00000499889.1:n.577+17C>T
ENST00000673594.1:n.521C>T
ENST00000304874.13:c.655+17C>T	ENSP00000307188.9:n.655+17C>T
ENST00000362000.9:c.460+17C>T	ENSP00000354710.5:n.460+17C>T
ENST00000380839.8:c.577+17C>T	ENSP00000370219.4:n.577+17C>T
ENST00000395331.3:c.655+17C>T	ENSP00000378740.3:n.655+17C>T
ENST00000395332.7:c.655+17C>T	ENSP00000378741.3:n.655+17C>T
NM_000048.3:c.655+17C>T	NP_000039.2:n.655+17C>T
NM_001024943.1:c.655+17C>T	NP_001020114.1:n.655+17C>T
NM_001024944.1:c.655+17C>T	NP_001020115.1:n.655+17C>T
NM_001024946.1:c.577+17C>T	NP_001020117.1:n.577+17C>T
NM_000048.4:c.655+17C>T MANE Select	NP_000039.2:n.655+17C>T
NM_001024943.2:c.655+17C>T	NP_001020114.1:n.655+17C>T
NM_001024944.2:c.655+17C>T	NP_001020115.1:n.655+17C>T
NM_001024946.2:c.577+17C>T	NP_001020117.1:n.577+17C>T