Canonical Allele Identifier: CA2684801246

Gene: GARIN1B

Linked Data

• gnomAD v4: 7-128723147-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128723147G>T , CM000669.2:g.128723147G>T	GRCh38
NC_000007.13:g.128363201G>T , CM000669.1:g.128363201G>T	GRCh37
NC_000007.12:g.128150437G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000621392.5:c.688-50G>T MANE Select	ENSP00000477573.2:n.688-50G>T
ENST00000315184.9:c.688-50G>T	ENSP00000326652.4:n.688-50G>T
ENST00000466842.1:c.256-50G>T	ENSP00000417930.1:n.256-50G>T
ENST00000469348.5:n.547-50G>T
ENST00000471558.5:c.688-50G>T	ENSP00000418672.1:n.688-50G>T
ENST00000484425.6:c.259-50G>T	ENSP00000418591.2:n.259-50G>T
ENST00000485070.5:c.391-50G>T	ENSP00000418192.1:n.391-50G>T
ENST00000493738.5:n.644-50G>T
ENST00000621392.4:c.391-50G>T	ENSP00000477573.1:n.391-50G>T
NM_001282788.1:c.688-50G>T	NP_001269717.1:n.688-50G>T
NM_001282789.1:c.391-50G>T	NP_001269718.1:n.391-50G>T
NM_032599.3:c.688-50G>T	NP_115988.1:n.688-50G>T
NR_104242.1:n.788-50G>T
NR_104243.1:n.677-50G>T
XM_017012743.2:c.688-50G>T	XP_016868232.1:n.688-50G>T
XR_002956499.1:n.739-50G>T
NM_001282788.2:c.688-50G>T	NP_001269717.1:n.688-50G>T
NM_001282789.2:c.391-50G>T	NP_001269718.1:n.391-50G>T
NM_032599.4:c.688-50G>T	NP_115988.1:n.688-50G>T
NR_104242.2:n.739-50G>T
NR_104243.2:n.677-50G>T
NM_001282788.3:c.688-50G>T MANE Select	NP_001269717.1:n.688-50G>T