Canonical Allele Identifier: CA455451067

Gene: ASL

Linked Data

• ClinVar Variation Id: 2845683
• ClinVar RCV Id: RCV003604811
• dbSNP Id: rs151294789
• MyVariant Identifiers: chr7:g.65554271G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089284G>A , CM000669.2:g.66089284G>A	GRCh38
NC_000007.13:g.65554271G>A , CM000669.1:g.65554271G>A	GRCh37
NC_000007.12:g.65191706G>A	NCBI36
NG_009288.1:g.18496G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.927G>A MANE Select	ENSP00000307188.9:p.Gly309=
ENST00000362000.10:c.732G>A	ENSP00000354710.6:p.Gly244=
ENST00000380839.9:c.849G>A	ENSP00000370219.4:p.Gly283=
ENST00000395331.4:c.918+109G>A	ENSP00000378740.3:n.918+109G>A
ENST00000395332.8:c.927G>A	ENSP00000378741.3:p.Gly309=
ENST00000488343.2:c.96G>A	ENSP00000500864.1:p.Gly32=
ENST00000671817.1:c.849G>A	ENSP00000500462.1:p.Gly283=
ENST00000672498.1:c.*226G>A	ENSP00000500227.1:n.*226G>A
ENST00000672586.1:n.1686G>A
ENST00000672676.1:n.1951G>A
ENST00000673149.1:n.739G>A
ENST00000673350.1:n.3044G>A
ENST00000673518.1:c.849G>A	ENSP00000499889.1:p.Gly283=
ENST00000304874.13:c.927G>A	ENSP00000307188.9:p.Gly309=
ENST00000380839.8:c.849G>A	ENSP00000370219.4:p.Gly283=
ENST00000395331.3:c.918+109G>A	ENSP00000378740.3:n.918+109G>A
ENST00000395332.7:c.927G>A	ENSP00000378741.3:p.Gly309=
ENST00000450043.2:c.240G>A	ENSP00000396527.2:p.Gly80=
ENST00000464970.1:n.46G>A
ENST00000488343.1:n.96G>A
ENST00000493708.5:n.408G>A
NM_000048.3:c.927G>A	NP_000039.2:p.Gly309=
NM_001024943.1:c.927G>A	NP_001020114.1:p.Gly309=
NM_001024944.1:c.918+109G>A	NP_001020115.1:n.918+109G>A
NM_001024946.1:c.849G>A	NP_001020117.1:p.Gly283=
NM_000048.4:c.927G>A MANE Select	NP_000039.2:p.Gly309=
NM_001024943.2:c.927G>A	NP_001020114.1:p.Gly309=
NM_001024944.2:c.918+109G>A	NP_001020115.1:n.918+109G>A
NM_001024946.2:c.849G>A	NP_001020117.1:p.Gly283=