Canonical Allele Identifier: CA369196754

Gene: GARIN1B

Linked Data

• MyVariant Identifiers: chr7:g.128363306T>C (hg19) ; chr7:g.128723252T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128723252T>C , CM000669.2:g.128723252T>C	GRCh38
NC_000007.13:g.128363306T>C , CM000669.1:g.128363306T>C	GRCh37
NC_000007.12:g.128150542T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000621392.5:c.743T>C MANE Select	ENSP00000477573.2:p.Met248Thr
ENST00000315184.9:c.743T>C	ENSP00000326652.4:p.Met248Thr
ENST00000466842.1:c.311T>C	ENSP00000417930.1:p.Met104Thr
ENST00000469348.5:n.602T>C
ENST00000471558.5:c.743T>C	ENSP00000418672.1:p.Met248Thr
ENST00000484425.6:c.314T>C	ENSP00000418591.2:p.Met105Thr
ENST00000485070.5:c.446T>C	ENSP00000418192.1:p.Met149Thr
ENST00000493738.5:n.699T>C
ENST00000621392.4:c.446T>C	ENSP00000477573.1:p.Met149Thr
NM_001282788.1:c.743T>C	NP_001269717.1:p.Met248Thr
NM_001282789.1:c.446T>C	NP_001269718.1:p.Met149Thr
NM_032599.3:c.743T>C	NP_115988.1:p.Met248Thr
NR_104242.1:n.843T>C
NR_104243.1:n.732T>C
XM_017012743.2:c.743T>C	XP_016868232.1:p.Met248Thr
XR_002956499.1:n.794T>C
NM_001282788.2:c.743T>C	NP_001269717.1:p.Met248Thr
NM_001282789.2:c.446T>C	NP_001269718.1:p.Met149Thr
NM_032599.4:c.743T>C	NP_115988.1:p.Met248Thr
NR_104242.2:n.794T>C
NR_104243.2:n.732T>C
NM_001282788.3:c.743T>C MANE Select	NP_001269717.1:p.Met248Thr