Canonical Allele Identifier: CA10625744

Gene: ARG1

Linked Data

• ClinVar Variation Id: 355315
• ClinVar RCV Id: RCV001683411
• dbSNP Id: rs17788484
• gnomAD v2: 6-131894358-C-T
• gnomAD v3: 6-131573218-C-T
• gnomAD v4: 6-131573218-C-T
• MyVariant Identifiers: chr6:g.131894358C>T (hg19) ; chr6:g.131573218C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131573218C>T , CM000668.2:g.131573218C>T	GRCh38
NC_000006.11:g.131894358C>T , CM000668.1:g.131894358C>T	GRCh37
NC_000006.10:g.131936051C>T	NCBI36
NG_007086.2:g.4994C>T
NG_031860.1:g.60006G>A
NG_031860.2:g.60006G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000672052.1:n.305-3445C>T
ENST00000672233.1:c.77-5893C>T	ENSP00000499826.1:n.77-5893C>T
ENST00000673234.1:c.77-3445C>T	ENSP00000499885.1:n.77-3445C>T
ENST00000368087.7:c.-65C>T	ENSP00000357066.3:n.-65C>T
ENST00000469293.1:n.25C>T
NM_000045.3:c.-65C>T	NP_000036.2:n.-65C>T
NM_001244438.1:c.-65C>T	NP_001231367.1:n.-65C>T
XM_011535801.1:c.-65C>T	XP_011534103.1:n.-65C>T
XM_011535801.2:c.-65C>T	XP_011534103.1:n.-65C>T