Canonical Allele Identifier: CA369196768

Gene: GARIN1B

Linked Data

• MyVariant Identifiers: chr7:g.128363308A>G (hg19) ; chr7:g.128723254A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128723254A>G , CM000669.2:g.128723254A>G	GRCh38
NC_000007.13:g.128363308A>G , CM000669.1:g.128363308A>G	GRCh37
NC_000007.12:g.128150544A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621392.5:c.745A>G MANE Select	ENSP00000477573.2:p.Thr249Ala
ENST00000315184.9:c.745A>G	ENSP00000326652.4:p.Thr249Ala
ENST00000466842.1:c.313A>G	ENSP00000417930.1:p.Thr105Ala
ENST00000469348.5:n.604A>G
ENST00000471558.5:c.745A>G	ENSP00000418672.1:p.Thr249Ala
ENST00000484425.6:c.316A>G	ENSP00000418591.2:p.Thr106Ala
ENST00000485070.5:c.448A>G	ENSP00000418192.1:p.Thr150Ala
ENST00000493738.5:n.701A>G
ENST00000621392.4:c.448A>G	ENSP00000477573.1:p.Thr150Ala
NM_001282788.1:c.745A>G	NP_001269717.1:p.Thr249Ala
NM_001282789.1:c.448A>G	NP_001269718.1:p.Thr150Ala
NM_032599.3:c.745A>G	NP_115988.1:p.Thr249Ala
NR_104242.1:n.845A>G
NR_104243.1:n.734A>G
XM_017012743.2:c.745A>G	XP_016868232.1:p.Thr249Ala
XR_002956499.1:n.796A>G
NM_001282788.2:c.745A>G	NP_001269717.1:p.Thr249Ala
NM_001282789.2:c.448A>G	NP_001269718.1:p.Thr150Ala
NM_032599.4:c.745A>G	NP_115988.1:p.Thr249Ala
NR_104242.2:n.796A>G
NR_104243.2:n.734A>G
NM_001282788.3:c.745A>G MANE Select	NP_001269717.1:p.Thr249Ala