Canonical Allele Identifier: CA367642121

Gene: ASL

Linked Data

• gnomAD v4: 7-66086647-G-T
• MyVariant Identifiers: chr7:g.65551634G>T (hg19) ; chr7:g.66086647G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66086647G>T , CM000669.2:g.66086647G>T	GRCh38
NC_000007.13:g.65551634G>T , CM000669.1:g.65551634G>T	GRCh37
NC_000007.12:g.65189069G>T	NCBI36
NG_009288.1:g.15859G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.509G>T MANE Select	ENSP00000307188.9:p.Ser170Ile
ENST00000362000.10:c.314G>T	ENSP00000354710.6:p.Ser105Ile
ENST00000380839.9:c.509G>T	ENSP00000370219.4:p.Ser170Ile
ENST00000395331.4:c.509G>T	ENSP00000378740.3:p.Ser170Ile
ENST00000395332.8:c.509G>T	ENSP00000378741.3:p.Ser170Ile
ENST00000671817.1:c.509G>T	ENSP00000500462.1:p.Ser170Ile
ENST00000672498.1:c.447-1082G>T	ENSP00000500227.1:n.447-1082G>T
ENST00000672586.1:n.414G>T
ENST00000672676.1:n.679G>T
ENST00000673149.1:n.321G>T
ENST00000673350.1:n.757G>T
ENST00000673518.1:c.509G>T	ENSP00000499889.1:p.Ser170Ile
ENST00000673594.1:n.358G>T
ENST00000304874.13:c.509G>T	ENSP00000307188.9:p.Ser170Ile
ENST00000362000.9:c.314G>T	ENSP00000354710.5:p.Ser105Ile
ENST00000380839.8:c.509G>T	ENSP00000370219.4:p.Ser170Ile
ENST00000395331.3:c.509G>T	ENSP00000378740.3:p.Ser170Ile
ENST00000395332.7:c.509G>T	ENSP00000378741.3:p.Ser170Ile
ENST00000487982.5:n.575G>T
NM_000048.3:c.509G>T	NP_000039.2:p.Ser170Ile
NM_001024943.1:c.509G>T	NP_001020114.1:p.Ser170Ile
NM_001024944.1:c.509G>T	NP_001020115.1:p.Ser170Ile
NM_001024946.1:c.509G>T	NP_001020117.1:p.Ser170Ile
NM_000048.4:c.509G>T MANE Select	NP_000039.2:p.Ser170Ile
NM_001024943.2:c.509G>T	NP_001020114.1:p.Ser170Ile
NM_001024944.2:c.509G>T	NP_001020115.1:p.Ser170Ile
NM_001024946.2:c.509G>T	NP_001020117.1:p.Ser170Ile