Canonical Allele Identifier: CA369196655

Gene: GARIN1B

Linked Data

• MyVariant Identifiers: chr7:g.128363289G>T (hg19) ; chr7:g.128723235G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128723235G>T , CM000669.2:g.128723235G>T	GRCh38
NC_000007.13:g.128363289G>T , CM000669.1:g.128363289G>T	GRCh37
NC_000007.12:g.128150525G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000621392.5:c.726G>T MANE Select	ENSP00000477573.2:p.Glu242Asp
ENST00000315184.9:c.726G>T	ENSP00000326652.4:p.Glu242Asp
ENST00000466842.1:c.294G>T	ENSP00000417930.1:p.Glu98Asp
ENST00000469348.5:n.585G>T
ENST00000471558.5:c.726G>T	ENSP00000418672.1:p.Glu242Asp
ENST00000484425.6:c.297G>T	ENSP00000418591.2:p.Glu99Asp
ENST00000485070.5:c.429G>T	ENSP00000418192.1:p.Glu143Asp
ENST00000493738.5:n.682G>T
ENST00000621392.4:c.429G>T	ENSP00000477573.1:p.Glu143Asp
NM_001282788.1:c.726G>T	NP_001269717.1:p.Glu242Asp
NM_001282789.1:c.429G>T	NP_001269718.1:p.Glu143Asp
NM_032599.3:c.726G>T	NP_115988.1:p.Glu242Asp
NR_104242.1:n.826G>T
NR_104243.1:n.715G>T
XM_017012743.2:c.726G>T	XP_016868232.1:p.Glu242Asp
XR_002956499.1:n.777G>T
NM_001282788.2:c.726G>T	NP_001269717.1:p.Glu242Asp
NM_001282789.2:c.429G>T	NP_001269718.1:p.Glu143Asp
NM_032599.4:c.726G>T	NP_115988.1:p.Glu242Asp
NR_104242.2:n.777G>T
NR_104243.2:n.715G>T
NM_001282788.3:c.726G>T MANE Select	NP_001269717.1:p.Glu242Asp