Canonical Allele Identifier: CA369196798

Gene: GARIN1B

Linked Data

• MyVariant Identifiers: chr7:g.128363314G>A (hg19) ; chr7:g.128723260G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128723260G>A , CM000669.2:g.128723260G>A	GRCh38
NC_000007.13:g.128363314G>A , CM000669.1:g.128363314G>A	GRCh37
NC_000007.12:g.128150550G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621392.5:c.751G>A MANE Select	ENSP00000477573.2:p.Gly251Arg
ENST00000315184.9:c.751G>A	ENSP00000326652.4:p.Gly251Arg
ENST00000466842.1:c.319G>A	ENSP00000417930.1:p.Gly107Arg
ENST00000469348.5:n.610G>A
ENST00000471558.5:c.751G>A	ENSP00000418672.1:p.Gly251Arg
ENST00000484425.6:c.322G>A	ENSP00000418591.2:p.Gly108Arg
ENST00000485070.5:c.454G>A	ENSP00000418192.1:p.Gly152Arg
ENST00000493738.5:n.707G>A
ENST00000621392.4:c.454G>A	ENSP00000477573.1:p.Gly152Arg
NM_001282788.1:c.751G>A	NP_001269717.1:p.Gly251Arg
NM_001282789.1:c.454G>A	NP_001269718.1:p.Gly152Arg
NM_032599.3:c.751G>A	NP_115988.1:p.Gly251Arg
NR_104242.1:n.851G>A
NR_104243.1:n.740G>A
XM_017012743.2:c.751G>A	XP_016868232.1:p.Gly251Arg
XR_002956499.1:n.802G>A
NM_001282788.2:c.751G>A	NP_001269717.1:p.Gly251Arg
NM_001282789.2:c.454G>A	NP_001269718.1:p.Gly152Arg
NM_032599.4:c.751G>A	NP_115988.1:p.Gly251Arg
NR_104242.2:n.802G>A
NR_104243.2:n.740G>A
NM_001282788.3:c.751G>A MANE Select	NP_001269717.1:p.Gly251Arg