Canonical Allele Identifier: CA1107056225

Gene: GARIN1B

Linked Data

• dbSNP Id: rs1799619967
• gnomAD v3: 7-128723351-T-C
• gnomAD v4: 7-128723351-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128723351T>C , CM000669.2:g.128723351T>C	GRCh38
NC_000007.13:g.128363405T>C , CM000669.1:g.128363405T>C	GRCh37
NC_000007.12:g.128150641T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621392.5:c.809+33T>C MANE Select	ENSP00000477573.2:n.809+33T>C
ENST00000315184.9:c.809+33T>C	ENSP00000326652.4:n.809+33T>C
ENST00000466842.1:c.377+33T>C	ENSP00000417930.1:n.377+33T>C
ENST00000469348.5:n.668+33T>C
ENST00000471558.5:c.809+33T>C	ENSP00000418672.1:n.809+33T>C
ENST00000484425.6:c.380+33T>C	ENSP00000418591.2:n.380+33T>C
ENST00000485070.5:c.512+33T>C	ENSP00000418192.1:n.512+33T>C
ENST00000493738.5:n.798T>C
ENST00000621392.4:c.512+33T>C	ENSP00000477573.1:n.512+33T>C
NM_001282788.1:c.809+33T>C	NP_001269717.1:n.809+33T>C
NM_001282789.1:c.512+33T>C	NP_001269718.1:n.512+33T>C
NM_032599.3:c.809+33T>C	NP_115988.1:n.809+33T>C
NR_104242.1:n.909+33T>C
NR_104243.1:n.798+33T>C
XM_017012743.2:c.809+33T>C	XP_016868232.1:n.809+33T>C
XR_002956499.1:n.860+33T>C
NM_001282788.2:c.809+33T>C	NP_001269717.1:n.809+33T>C
NM_001282789.2:c.512+33T>C	NP_001269718.1:n.512+33T>C
NM_032599.4:c.809+33T>C	NP_115988.1:n.809+33T>C
NR_104242.2:n.860+33T>C
NR_104243.2:n.798+33T>C
NM_001282788.3:c.809+33T>C MANE Select	NP_001269717.1:n.809+33T>C