Canonical Allele Identifier: CA821824916
Gene: GMPR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.16287961G>C , CM000668.2:g.16287961G>C GRCh38
NC_000006.11:g.16288192G>C , CM000668.1:g.16288192G>C GRCh37
NC_000006.10:g.16396171G>C NCBI36
NG_013303.1:g.54382G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000259727.5:c.697+2126G>C MANE Select ENSP00000259727.4:n.697+2126G>C
ENST00000259727.4:c.697+2126G>C ENSP00000259727.4:n.697+2126G>C
ENST00000543191.5:n.192+2126G>C
NM_006877.3:c.697+2126G>C NP_006868.3:n.697+2126G>C
XM_011514508.1:c.698-1465G>C XP_011512810.1:n.698-1465G>C
XM_011514508.2:c.698-1465G>C XP_011512810.1:n.698-1465G>C
NM_006877.4:c.697+2126G>C MANE Select NP_006868.3:n.697+2126G>C