Canonical Allele Identifier: CA369196642

Gene: GARIN1B

Linked Data

• gnomAD v4: 7-128723233-G-C
• MyVariant Identifiers: chr7:g.128363287G>C (hg19) ; chr7:g.128723233G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128723233G>C , CM000669.2:g.128723233G>C	GRCh38
NC_000007.13:g.128363287G>C , CM000669.1:g.128363287G>C	GRCh37
NC_000007.12:g.128150523G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000621392.5:c.724G>C MANE Select	ENSP00000477573.2:p.Glu242Gln
ENST00000315184.9:c.724G>C	ENSP00000326652.4:p.Glu242Gln
ENST00000466842.1:c.292G>C	ENSP00000417930.1:p.Glu98Gln
ENST00000469348.5:n.583G>C
ENST00000471558.5:c.724G>C	ENSP00000418672.1:p.Glu242Gln
ENST00000484425.6:c.295G>C	ENSP00000418591.2:p.Glu99Gln
ENST00000485070.5:c.427G>C	ENSP00000418192.1:p.Glu143Gln
ENST00000493738.5:n.680G>C
ENST00000621392.4:c.427G>C	ENSP00000477573.1:p.Glu143Gln
NM_001282788.1:c.724G>C	NP_001269717.1:p.Glu242Gln
NM_001282789.1:c.427G>C	NP_001269718.1:p.Glu143Gln
NM_032599.3:c.724G>C	NP_115988.1:p.Glu242Gln
NR_104242.1:n.824G>C
NR_104243.1:n.713G>C
XM_017012743.2:c.724G>C	XP_016868232.1:p.Glu242Gln
XR_002956499.1:n.775G>C
NM_001282788.2:c.724G>C	NP_001269717.1:p.Glu242Gln
NM_001282789.2:c.427G>C	NP_001269718.1:p.Glu143Gln
NM_032599.4:c.724G>C	NP_115988.1:p.Glu242Gln
NR_104242.2:n.775G>C
NR_104243.2:n.713G>C
NM_001282788.3:c.724G>C MANE Select	NP_001269717.1:p.Glu242Gln