Canonical Allele Identifier: CA455680017

Gene: ASL

Linked Data

• ClinVar Variation Id: 3021550
• ClinVar RCV Id: RCV003875173
• gnomAD v4: 7-66088910-A-G
• MyVariant Identifiers: chr7:g.65553897A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66088910A>G , CM000669.2:g.66088910A>G	GRCh38
NC_000007.13:g.65553897A>G , CM000669.1:g.65553897A>G	GRCh37
NC_000007.12:g.65191332A>G	NCBI36
NG_009288.1:g.18122A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.822A>G MANE Select	ENSP00000307188.9:p.Ser274=
ENST00000362000.10:c.627A>G	ENSP00000354710.6:p.Ser209=
ENST00000380839.9:c.744A>G	ENSP00000370219.4:p.Ser248=
ENST00000395331.4:c.822A>G	ENSP00000378740.3:p.Ser274=
ENST00000395332.8:c.822A>G	ENSP00000378741.3:p.Ser274=
ENST00000671817.1:c.744A>G	ENSP00000500462.1:p.Ser248=
ENST00000672498.1:c.*121A>G	ENSP00000500227.1:n.*121A>G
ENST00000672586.1:n.1581A>G
ENST00000672676.1:n.1846A>G
ENST00000673149.1:n.634A>G
ENST00000673350.1:n.2939A>G
ENST00000673518.1:c.744A>G	ENSP00000499889.1:p.Ser248=
ENST00000304874.13:c.822A>G	ENSP00000307188.9:p.Ser274=
ENST00000362000.9:c.627A>G	ENSP00000354710.5:p.Ser209=
ENST00000380839.8:c.744A>G	ENSP00000370219.4:p.Ser248=
ENST00000395331.3:c.822A>G	ENSP00000378740.3:p.Ser274=
ENST00000395332.7:c.822A>G	ENSP00000378741.3:p.Ser274=
ENST00000450043.2:c.135A>G	ENSP00000396527.2:p.Ser45=
ENST00000493708.5:n.203A>G
NM_000048.3:c.822A>G	NP_000039.2:p.Ser274=
NM_001024943.1:c.822A>G	NP_001020114.1:p.Ser274=
NM_001024944.1:c.822A>G	NP_001020115.1:p.Ser274=
NM_001024946.1:c.744A>G	NP_001020117.1:p.Ser248=
NM_000048.4:c.822A>G MANE Select	NP_000039.2:p.Ser274=
NM_001024943.2:c.822A>G	NP_001020114.1:p.Ser274=
NM_001024944.2:c.822A>G	NP_001020115.1:p.Ser274=
NM_001024946.2:c.744A>G	NP_001020117.1:p.Ser248=