Canonical Allele Identifier: CA3645014

Gene: GMPR

Linked Data

• dbSNP Id: rs747854982
• ExAC: 6:16290766 G / C
• gnomAD v3: 6-16290535-G-C
• gnomAD v4: 6-16290535-G-C
• MyVariant Identifiers: chr6:g.16290766G>C (hg19) ; chr6:g.16290535G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16290535G>C , CM000668.2:g.16290535G>C	GRCh38
NC_000006.11:g.16290766G>C , CM000668.1:g.16290766G>C	GRCh37
NC_000006.10:g.16398745G>C	NCBI36
NG_013303.1:g.56956G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000259727.5:c.771G>C MANE Select	ENSP00000259727.4:p.Glu257Asp
ENST00000259727.4:c.771G>C	ENSP00000259727.4:p.Glu257Asp
ENST00000540478.1:n.591G>C
ENST00000543191.5:n.266G>C
ENST00000544145.1:n.125G>C
NM_006877.3:c.771G>C	NP_006868.3:p.Glu257Asp
XM_011514508.1:c.914G>C	XP_011512810.1:p.Arg305Thr
XM_011514508.2:c.914G>C	XP_011512810.1:p.Arg305Thr
NM_006877.4:c.771G>C MANE Select	NP_006868.3:p.Glu257Asp