Canonical Allele Identifier: CA4472361

Gene: GARIN1B

Linked Data

• dbSNP Id: rs774248674
• ExAC: 7:128363307 G / A
• gnomAD v2: 7-128363307-G-A
• gnomAD v3: 7-128723253-G-A
• gnomAD v4: 7-128723253-G-A
• MyVariant Identifiers: chr7:g.128363307G>A (hg19) ; chr7:g.128723253G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128723253G>A , CM000669.2:g.128723253G>A	GRCh38
NC_000007.13:g.128363307G>A , CM000669.1:g.128363307G>A	GRCh37
NC_000007.12:g.128150543G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000621392.5:c.744G>A MANE Select	ENSP00000477573.2:p.Met248Ile
ENST00000315184.9:c.744G>A	ENSP00000326652.4:p.Met248Ile
ENST00000466842.1:c.312G>A	ENSP00000417930.1:p.Met104Ile
ENST00000469348.5:n.603G>A
ENST00000471558.5:c.744G>A	ENSP00000418672.1:p.Met248Ile
ENST00000484425.6:c.315G>A	ENSP00000418591.2:p.Met105Ile
ENST00000485070.5:c.447G>A	ENSP00000418192.1:p.Met149Ile
ENST00000493738.5:n.700G>A
ENST00000621392.4:c.447G>A	ENSP00000477573.1:p.Met149Ile
NM_001282788.1:c.744G>A	NP_001269717.1:p.Met248Ile
NM_001282789.1:c.447G>A	NP_001269718.1:p.Met149Ile
NM_032599.3:c.744G>A	NP_115988.1:p.Met248Ile
NR_104242.1:n.844G>A
NR_104243.1:n.733G>A
XM_017012743.2:c.744G>A	XP_016868232.1:p.Met248Ile
XR_002956499.1:n.795G>A
NM_001282788.2:c.744G>A	NP_001269717.1:p.Met248Ile
NM_001282789.2:c.447G>A	NP_001269718.1:p.Met149Ile
NM_032599.4:c.744G>A	NP_115988.1:p.Met248Ile
NR_104242.2:n.795G>A
NR_104243.2:n.733G>A
NM_001282788.3:c.744G>A MANE Select	NP_001269717.1:p.Met248Ile