Canonical Allele Identifier: CA365649038

Gene: ARG1

Linked Data

• ClinVar Variation Id: 1979830
• ClinVar RCV Id: RCV002756163
• MyVariant Identifiers: chr6:g.131894436C>G (hg19) ; chr6:g.131573296C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131573296C>G , CM000668.2:g.131573296C>G	GRCh38
NC_000006.11:g.131894436C>G , CM000668.1:g.131894436C>G	GRCh37
NC_000006.10:g.131936129C>G	NCBI36
NG_007086.2:g.5072C>G
NG_031860.1:g.59928G>C
NG_031860.2:g.59928G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368087.8:c.14C>G MANE Select	ENSP00000357066.3:p.Ser5Cys
ENST00000640973.1:c.14C>G	ENSP00000492623.1:p.Ser5Cys
ENST00000672052.1:n.305-3367C>G
ENST00000672233.1:c.77-5815C>G	ENSP00000499826.1:n.77-5815C>G
ENST00000673234.1:c.77-3367C>G	ENSP00000499885.1:n.77-3367C>G
ENST00000673427.1:c.14C>G	ENSP00000500160.1:p.Ser5Cys
ENST00000275196.5:n.71C>G
ENST00000356962.2:c.14C>G	ENSP00000349446.2:p.Ser5Cys
ENST00000368087.7:c.14C>G	ENSP00000357066.3:p.Ser5Cys
ENST00000469293.1:n.103C>G
ENST00000498260.1:n.55C>G
NM_000045.3:c.14C>G	NP_000036.2:p.Ser5Cys
NM_001244438.1:c.14C>G	NP_001231367.1:p.Ser5Cys
XM_011535801.1:c.14C>G	XP_011534103.1:p.Ser5Cys
XM_011535801.2:c.14C>G	XP_011534103.1:p.Ser5Cys
NM_000045.4:c.14C>G MANE Select	NP_000036.2:p.Ser5Cys
NM_001244438.2:c.14C>G	NP_001231367.1:p.Ser5Cys
NM_001369020.1:c.14C>G	NP_001355949.1:p.Ser5Cys
NR_160934.1:n.71C>G