Canonical Allele Identifier: CA369196695

Gene: GARIN1B

Linked Data

• MyVariant Identifiers: chr7:g.128363296A>T (hg19) ; chr7:g.128723242A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128723242A>T , CM000669.2:g.128723242A>T	GRCh38
NC_000007.13:g.128363296A>T , CM000669.1:g.128363296A>T	GRCh37
NC_000007.12:g.128150532A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000621392.5:c.733A>T MANE Select	ENSP00000477573.2:p.Ile245Phe
ENST00000315184.9:c.733A>T	ENSP00000326652.4:p.Ile245Phe
ENST00000466842.1:c.301A>T	ENSP00000417930.1:p.Ile101Phe
ENST00000469348.5:n.592A>T
ENST00000471558.5:c.733A>T	ENSP00000418672.1:p.Ile245Phe
ENST00000484425.6:c.304A>T	ENSP00000418591.2:p.Ile102Phe
ENST00000485070.5:c.436A>T	ENSP00000418192.1:p.Ile146Phe
ENST00000493738.5:n.689A>T
ENST00000621392.4:c.436A>T	ENSP00000477573.1:p.Ile146Phe
NM_001282788.1:c.733A>T	NP_001269717.1:p.Ile245Phe
NM_001282789.1:c.436A>T	NP_001269718.1:p.Ile146Phe
NM_032599.3:c.733A>T	NP_115988.1:p.Ile245Phe
NR_104242.1:n.833A>T
NR_104243.1:n.722A>T
XM_017012743.2:c.733A>T	XP_016868232.1:p.Ile245Phe
XR_002956499.1:n.784A>T
NM_001282788.2:c.733A>T	NP_001269717.1:p.Ile245Phe
NM_001282789.2:c.436A>T	NP_001269718.1:p.Ile146Phe
NM_032599.4:c.733A>T	NP_115988.1:p.Ile245Phe
NR_104242.2:n.784A>T
NR_104243.2:n.722A>T
NM_001282788.3:c.733A>T MANE Select	NP_001269717.1:p.Ile245Phe