Canonical Allele Identifier: CA12263160
Gene: GMPR HGNC NCBI
dbSNP:
10484358
gnomAD v2:
6:16256043 G / T
gnomAD v3:
6:16255812 G / T
gnomAD v4:
chr6-16255812-G-T
Joint Max Group AF 0.08520296 (NFE)
Genomes Max Group AF 0.08520296 (NFE)
MyVariant.info:
GRCh38 chr6:g.16255812G>T
GRCh37 chr6:g.16256043G>T
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.16255812G>T , CM000668.2:g.16255812G>T GRCh38
NC_000006.11:g.16256043G>T , CM000668.1:g.16256043G>T GRCh37
NC_000006.10:g.16364022G>T NCBI36
NG_013303.1:g.22233G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000259727.5:c.465+1077G>T MANE Select ENSP00000259727.4:n.465+1077G>T
ENST00000259727.4:c.465+1077G>T ENSP00000259727.4:n.465+1077G>T
NM_006877.3:c.465+1077G>T NP_006868.3:n.465+1077G>T
XM_011514508.1:c.465+1077G>T XP_011512810.1:n.465+1077G>T
XM_011514508.2:c.465+1077G>T XP_011512810.1:n.465+1077G>T
NM_006877.4:c.465+1077G>T MANE Select NP_006868.3:n.465+1077G>T
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