Canonical Allele Identifier: CA455679992

Gene: ASL

Linked Data

• dbSNP Id: rs143359899
• gnomAD v2: 7-65553855-C-A
• MyVariant Identifiers: chr7:g.65553855C>A (hg19) ; chr7:g.66088868C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66088868C>A , CM000669.2:g.66088868C>A	GRCh38
NC_000007.13:g.65553855C>A , CM000669.1:g.65553855C>A	GRCh37
NC_000007.12:g.65191290C>A	NCBI36
NG_009288.1:g.18080C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.780C>A MANE Select	ENSP00000307188.9:p.Leu260=
ENST00000362000.10:c.585C>A	ENSP00000354710.6:p.Leu195=
ENST00000380839.9:c.702C>A	ENSP00000370219.4:p.Leu234=
ENST00000395331.4:c.780C>A	ENSP00000378740.3:p.Leu260=
ENST00000395332.8:c.780C>A	ENSP00000378741.3:p.Leu260=
ENST00000671817.1:c.702C>A	ENSP00000500462.1:p.Leu234=
ENST00000672498.1:c.*79C>A	ENSP00000500227.1:n.*79C>A
ENST00000672586.1:n.1539C>A
ENST00000672676.1:n.1804C>A
ENST00000673149.1:n.592C>A
ENST00000673350.1:n.2897C>A
ENST00000673518.1:c.702C>A	ENSP00000499889.1:p.Leu234=
ENST00000304874.13:c.780C>A	ENSP00000307188.9:p.Leu260=
ENST00000362000.9:c.585C>A	ENSP00000354710.5:p.Leu195=
ENST00000380839.8:c.702C>A	ENSP00000370219.4:p.Leu234=
ENST00000395331.3:c.780C>A	ENSP00000378740.3:p.Leu260=
ENST00000395332.7:c.780C>A	ENSP00000378741.3:p.Leu260=
ENST00000450043.2:c.93C>A	ENSP00000396527.2:p.Leu31=
ENST00000493708.5:n.161C>A
NM_000048.3:c.780C>A	NP_000039.2:p.Leu260=
NM_001024943.1:c.780C>A	NP_001020114.1:p.Leu260=
NM_001024944.1:c.780C>A	NP_001020115.1:p.Leu260=
NM_001024946.1:c.702C>A	NP_001020117.1:p.Leu234=
NM_000048.4:c.780C>A MANE Select	NP_000039.2:p.Leu260=
NM_001024943.2:c.780C>A	NP_001020114.1:p.Leu260=
NM_001024944.2:c.780C>A	NP_001020115.1:p.Leu260=
NM_001024946.2:c.702C>A	NP_001020117.1:p.Leu234=