Canonical Allele Identifier: CA369196669

Gene: GARIN1B

Linked Data

• MyVariant Identifiers: chr7:g.128363291G>T (hg19) ; chr7:g.128723237G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128723237G>T , CM000669.2:g.128723237G>T	GRCh38
NC_000007.13:g.128363291G>T , CM000669.1:g.128363291G>T	GRCh37
NC_000007.12:g.128150527G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000621392.5:c.728G>T MANE Select	ENSP00000477573.2:p.Ser243Ile
ENST00000315184.9:c.728G>T	ENSP00000326652.4:p.Ser243Ile
ENST00000466842.1:c.296G>T	ENSP00000417930.1:p.Ser99Ile
ENST00000469348.5:n.587G>T
ENST00000471558.5:c.728G>T	ENSP00000418672.1:p.Ser243Ile
ENST00000484425.6:c.299G>T	ENSP00000418591.2:p.Ser100Ile
ENST00000485070.5:c.431G>T	ENSP00000418192.1:p.Ser144Ile
ENST00000493738.5:n.684G>T
ENST00000621392.4:c.431G>T	ENSP00000477573.1:p.Ser144Ile
NM_001282788.1:c.728G>T	NP_001269717.1:p.Ser243Ile
NM_001282789.1:c.431G>T	NP_001269718.1:p.Ser144Ile
NM_032599.3:c.728G>T	NP_115988.1:p.Ser243Ile
NR_104242.1:n.828G>T
NR_104243.1:n.717G>T
XM_017012743.2:c.728G>T	XP_016868232.1:p.Ser243Ile
XR_002956499.1:n.779G>T
NM_001282788.2:c.728G>T	NP_001269717.1:p.Ser243Ile
NM_001282789.2:c.431G>T	NP_001269718.1:p.Ser144Ile
NM_032599.4:c.728G>T	NP_115988.1:p.Ser243Ile
NR_104242.2:n.779G>T
NR_104243.2:n.717G>T
NM_001282788.3:c.728G>T MANE Select	NP_001269717.1:p.Ser243Ile