Canonical Allele Identifier: CA126109
Gene: GMPR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 15961
ClinVar RCV Id: RCV000017331
dbSNP Id: rs1042391

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.16290530T>A , CM000668.2:g.16290530T>A GRCh38
NC_000006.11:g.16290761T>A , CM000668.1:g.16290761T>A GRCh37
NC_000006.10:g.16398740T>A NCBI36
NG_013303.1:g.56951T>A

Transcript Alleles

HGVS Amino-acid change
NM_006877.3:c.766T>A VV NP_006868.3:p.Phe256Ile
XM_011514508.1:c.909T>A XP_011512810.1:p.Cys303Ter
XM_011514508.2:c.909T>A XP_011512810.1:p.Cys303Ter
ENST00000259727.4:c.766T>A ENSP00000259727.4:p.Phe256Ile
ENST00000540478.1:n.586T>A
ENST00000543191.5:n.261T>A
ENST00000544145.1:n.120T>A