Canonical Allele Identifier: CA577724831

Gene: GARIN1B

Linked Data

• dbSNP Id: rs1288344649
• gnomAD v2: 7-128363245-A-T
• gnomAD v4: 7-128723191-A-T
• MyVariant Identifiers: chr7:g.128363245A>T (hg19) ; chr7:g.128723191A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128723191A>T , CM000669.2:g.128723191A>T	GRCh38
NC_000007.13:g.128363245A>T , CM000669.1:g.128363245A>T	GRCh37
NC_000007.12:g.128150481A>T	NCBI36

Transcript Alleles

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