Canonical Allele Identifier: CA3999113

Gene: ARG1

Linked Data

• ClinVar Variation Id: 1493188
• ClinVar RCV Id: RCV001984182
• dbSNP Id: rs558377642
• ExAC: 6:131894429 G / A
• gnomAD v2: 6-131894429-G-A
• gnomAD v3: 6-131573289-G-A
• gnomAD v4: 6-131573289-G-A
• COSMIC: COSM3173092
• MyVariant Identifiers: chr6:g.131894429G>A (hg19) ; chr6:g.131573289G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131573289G>A , CM000668.2:g.131573289G>A	GRCh38
NC_000006.11:g.131894429G>A , CM000668.1:g.131894429G>A	GRCh37
NC_000006.10:g.131936122G>A	NCBI36
NG_007086.2:g.5065G>A
NG_031860.1:g.59935C>T
NG_031860.2:g.59935C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368087.8:c.7G>A MANE Select	ENSP00000357066.3:p.Ala3Thr
ENST00000640973.1:c.7G>A	ENSP00000492623.1:p.Ala3Thr
ENST00000672052.1:n.305-3374G>A
ENST00000672233.1:c.77-5822G>A	ENSP00000499826.1:n.77-5822G>A
ENST00000673234.1:c.77-3374G>A	ENSP00000499885.1:n.77-3374G>A
ENST00000673427.1:c.7G>A	ENSP00000500160.1:p.Ala3Thr
ENST00000275196.5:n.64G>A
ENST00000356962.2:c.7G>A	ENSP00000349446.2:p.Ala3Thr
ENST00000368087.7:c.7G>A	ENSP00000357066.3:p.Ala3Thr
ENST00000469293.1:n.96G>A
ENST00000498260.1:n.48G>A
NM_000045.3:c.7G>A	NP_000036.2:p.Ala3Thr
NM_001244438.1:c.7G>A	NP_001231367.1:p.Ala3Thr
XM_011535801.1:c.7G>A	XP_011534103.1:p.Ala3Thr
XM_011535801.2:c.7G>A	XP_011534103.1:p.Ala3Thr
NM_000045.4:c.7G>A MANE Select	NP_000036.2:p.Ala3Thr
NM_001244438.2:c.7G>A	NP_001231367.1:p.Ala3Thr
NM_001369020.1:c.7G>A	NP_001355949.1:p.Ala3Thr
NR_160934.1:n.64G>A