Canonical Allele Identifier: CA369196690

Gene: GARIN1B

Linked Data

• gnomAD v4: 7-128723240-T-G
• MyVariant Identifiers: chr7:g.128363294T>G (hg19) ; chr7:g.128723240T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128723240T>G , CM000669.2:g.128723240T>G	GRCh38
NC_000007.13:g.128363294T>G , CM000669.1:g.128363294T>G	GRCh37
NC_000007.12:g.128150530T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000621392.5:c.731T>G MANE Select	ENSP00000477573.2:p.Leu244Arg
ENST00000315184.9:c.731T>G	ENSP00000326652.4:p.Leu244Arg
ENST00000466842.1:c.299T>G	ENSP00000417930.1:p.Leu100Arg
ENST00000469348.5:n.590T>G
ENST00000471558.5:c.731T>G	ENSP00000418672.1:p.Leu244Arg
ENST00000484425.6:c.302T>G	ENSP00000418591.2:p.Leu101Arg
ENST00000485070.5:c.434T>G	ENSP00000418192.1:p.Leu145Arg
ENST00000493738.5:n.687T>G
ENST00000621392.4:c.434T>G	ENSP00000477573.1:p.Leu145Arg
NM_001282788.1:c.731T>G	NP_001269717.1:p.Leu244Arg
NM_001282789.1:c.434T>G	NP_001269718.1:p.Leu145Arg
NM_032599.3:c.731T>G	NP_115988.1:p.Leu244Arg
NR_104242.1:n.831T>G
NR_104243.1:n.720T>G
XM_017012743.2:c.731T>G	XP_016868232.1:p.Leu244Arg
XR_002956499.1:n.782T>G
NM_001282788.2:c.731T>G	NP_001269717.1:p.Leu244Arg
NM_001282789.2:c.434T>G	NP_001269718.1:p.Leu145Arg
NM_032599.4:c.731T>G	NP_115988.1:p.Leu244Arg
NR_104242.2:n.782T>G
NR_104243.2:n.720T>G
NM_001282788.3:c.731T>G MANE Select	NP_001269717.1:p.Leu244Arg