Canonical Allele Identifier: CA369196764

Gene: GARIN1B

Linked Data

• gnomAD v4: 7-128723253-G-T
• MyVariant Identifiers: chr7:g.128363307G>T (hg19) ; chr7:g.128723253G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128723253G>T , CM000669.2:g.128723253G>T	GRCh38
NC_000007.13:g.128363307G>T , CM000669.1:g.128363307G>T	GRCh37
NC_000007.12:g.128150543G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621392.5:c.744G>T MANE Select	ENSP00000477573.2:p.Met248Ile
ENST00000315184.9:c.744G>T	ENSP00000326652.4:p.Met248Ile
ENST00000466842.1:c.312G>T	ENSP00000417930.1:p.Met104Ile
ENST00000469348.5:n.603G>T
ENST00000471558.5:c.744G>T	ENSP00000418672.1:p.Met248Ile
ENST00000484425.6:c.315G>T	ENSP00000418591.2:p.Met105Ile
ENST00000485070.5:c.447G>T	ENSP00000418192.1:p.Met149Ile
ENST00000493738.5:n.700G>T
ENST00000621392.4:c.447G>T	ENSP00000477573.1:p.Met149Ile
NM_001282788.1:c.744G>T	NP_001269717.1:p.Met248Ile
NM_001282789.1:c.447G>T	NP_001269718.1:p.Met149Ile
NM_032599.3:c.744G>T	NP_115988.1:p.Met248Ile
NR_104242.1:n.844G>T
NR_104243.1:n.733G>T
XM_017012743.2:c.744G>T	XP_016868232.1:p.Met248Ile
XR_002956499.1:n.795G>T
NM_001282788.2:c.744G>T	NP_001269717.1:p.Met248Ile
NM_001282789.2:c.447G>T	NP_001269718.1:p.Met149Ile
NM_032599.4:c.744G>T	NP_115988.1:p.Met248Ile
NR_104242.2:n.795G>T
NR_104243.2:n.733G>T
NM_001282788.3:c.744G>T MANE Select	NP_001269717.1:p.Met248Ile