Canonical Allele Identifier: CA1742494521

Gene: GARIN1B

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128723233G= , CM000669.2:g.128723233G=	GRCh38
NC_000007.13:g.128363287G= , CM000669.1:g.128363287G=	GRCh37
NC_000007.12:g.128150523G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001282788.3:c.724G= MANE Select	NP_001269717.1:p.Glu242=
ENST00000621392.5:c.724G= MANE Select	ENSP00000477573.2:p.Glu242=
NM_001282788.1:c.724G=	NP_001269717.1:p.Glu242=
NM_001282788.2:c.724G=	NP_001269717.1:p.Glu242=
NM_001282789.1:c.427G=	NP_001269718.1:p.Glu143=
NM_001282789.2:c.427G=	NP_001269718.1:p.Glu143=
NM_032599.3:c.724G=	NP_115988.1:p.Glu242=
NM_032599.4:c.724G=	NP_115988.1:p.Glu242=
NR_104242.1:n.824G=
NR_104242.2:n.775G=
NR_104243.1:n.713G=
NR_104243.2:n.713G=
ENST00000315184.9:c.724G=	ENSP00000326652.4:p.Glu242=
ENST00000466842.1:c.292G=	ENSP00000417930.1:p.Glu98=
ENST00000469348.5:n.583G=
ENST00000471558.5:c.724G=	ENSP00000418672.1:p.Glu242=
ENST00000484425.6:c.295G=	ENSP00000418591.2:p.Glu99=
ENST00000485070.5:c.427G=	ENSP00000418192.1:p.Glu143=
ENST00000493738.5:n.680G=
ENST00000621392.4:c.427G=	ENSP00000477573.1:p.Glu143=
XM_017012743.2:c.724G=	XP_016868232.1:p.Glu242=
XR_002956499.1:n.775G=