Canonical Allele Identifier: CA4277162

Gene: ASL

Linked Data

• ClinVar Variation Id: 1570525
• ClinVar RCV Id: RCV002205647
• dbSNP Id: rs370973627
• ExAC: 7:65554105 G / A
• gnomAD v2: 7-65554105-G-A
• gnomAD v3: 7-66089118-G-A
• gnomAD v4: 7-66089118-G-A
• MyVariant Identifiers: chr7:g.65554105G>A (hg19) ; chr7:g.66089118G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089118G>A , CM000669.2:g.66089118G>A	GRCh38
NC_000007.13:g.65554105G>A , CM000669.1:g.65554105G>A	GRCh37
NC_000007.12:g.65191540G>A	NCBI36
NG_009288.1:g.18330G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.861G>A MANE Select	ENSP00000307188.9:p.Lys287=
ENST00000362000.10:c.666G>A	ENSP00000354710.6:p.Lys222=
ENST00000380839.9:c.783G>A	ENSP00000370219.4:p.Lys261=
ENST00000395331.4:c.861G>A	ENSP00000378740.3:p.Lys287=
ENST00000395332.8:c.861G>A	ENSP00000378741.3:p.Lys287=
ENST00000488343.2:c.30G>A	ENSP00000500864.1:p.Lys10=
ENST00000671817.1:c.783G>A	ENSP00000500462.1:p.Lys261=
ENST00000672498.1:c.*160G>A	ENSP00000500227.1:n.*160G>A
ENST00000672586.1:n.1620G>A
ENST00000672676.1:n.1885G>A
ENST00000673149.1:n.673G>A
ENST00000673350.1:n.2978G>A
ENST00000673518.1:c.783G>A	ENSP00000499889.1:p.Lys261=
ENST00000304874.13:c.861G>A	ENSP00000307188.9:p.Lys287=
ENST00000362000.9:c.666G>A	ENSP00000354710.5:p.Lys222=
ENST00000380839.8:c.783G>A	ENSP00000370219.4:p.Lys261=
ENST00000395331.3:c.861G>A	ENSP00000378740.3:p.Lys287=
ENST00000395332.7:c.861G>A	ENSP00000378741.3:p.Lys287=
ENST00000450043.2:c.174G>A	ENSP00000396527.2:p.Lys58=
ENST00000488343.1:n.30G>A
ENST00000493708.5:n.242G>A
NM_000048.3:c.861G>A	NP_000039.2:p.Lys287=
NM_001024943.1:c.861G>A	NP_001020114.1:p.Lys287=
NM_001024944.1:c.861G>A	NP_001020115.1:p.Lys287=
NM_001024946.1:c.783G>A	NP_001020117.1:p.Lys261=
NM_000048.4:c.861G>A MANE Select	NP_000039.2:p.Lys287=
NM_001024943.2:c.861G>A	NP_001020114.1:p.Lys287=
NM_001024944.2:c.861G>A	NP_001020115.1:p.Lys287=
NM_001024946.2:c.783G>A	NP_001020117.1:p.Lys261=