Canonical Allele Identifier: CA369197066

Gene: GARIN1B

Linked Data

• dbSNP Id: rs1471767088
• gnomAD v4: 7-128723318-G-A
• MyVariant Identifiers: chr7:g.128363372G>A (hg19) ; chr7:g.128723318G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128723318G>A , CM000669.2:g.128723318G>A	GRCh38
NC_000007.13:g.128363372G>A , CM000669.1:g.128363372G>A	GRCh37
NC_000007.12:g.128150608G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621392.5:c.809G>A MANE Select	ENSP00000477573.2:p.Arg270Lys
ENST00000315184.9:c.809G>A	ENSP00000326652.4:p.Ser270Asn
ENST00000466842.1:c.377G>A	ENSP00000417930.1:p.Ser126Asn
ENST00000469348.5:n.668G>A
ENST00000471558.5:c.809G>A	ENSP00000418672.1:p.Arg270Lys
ENST00000484425.6:c.380G>A	ENSP00000418591.2:p.Arg127Lys
ENST00000485070.5:c.512G>A	ENSP00000418192.1:p.Arg171Lys
ENST00000493738.5:n.765G>A
ENST00000621392.4:c.512G>A	ENSP00000477573.1:p.Arg171Lys
NM_001282788.1:c.809G>A	NP_001269717.1:p.Arg270Lys
NM_001282789.1:c.512G>A	NP_001269718.1:p.Arg171Lys
NM_032599.3:c.809G>A	NP_115988.1:p.Ser270Asn
NR_104242.1:n.909G>A
NR_104243.1:n.798G>A
XM_017012743.2:c.809G>A	XP_016868232.1:p.Arg270Lys
XR_002956499.1:n.860G>A
NM_001282788.2:c.809G>A	NP_001269717.1:p.Arg270Lys
NM_001282789.2:c.512G>A	NP_001269718.1:p.Arg171Lys
NM_032599.4:c.809G>A	NP_115988.1:p.Ser270Asn
NR_104242.2:n.860G>A
NR_104243.2:n.798G>A
NM_001282788.3:c.809G>A MANE Select	NP_001269717.1:p.Arg270Lys