Canonical Allele Identifier: CA575286
Gene: H6PD HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.9263851G>C
GRCh37 chr1:g.9323910G>C
Revel Score:
ENST00000377403 (MANE Select) 0.292
gnomAD v2:
1:9323910 G / C
gnomAD v3:
1:9263851 G / C
gnomAD v4:
chr1-9263851-G-C
Joint Max Group AF 0.00054432 (SAS)
Genomes Max Group AF 0.0000729 (SAS)
Exomes Max Group AF 0.0005542 (SAS)
dbSNP:
6688832
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.9263851G>C , CM000663.2:g.9263851G>C GRCh38
NC_000001.10:g.9323910G>C , CM000663.1:g.9323910G>C GRCh37
NC_000001.9:g.9246497G>C NCBI36
NG_012218.1:g.34048G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377403.7:c.1358G>C MANE Select ENSP00000366620.2:p.Arg453Pro
ENST00000377403.6:c.1358G>C ENSP00000366620.1:p.Arg453Pro
ENST00000602477.1:c.1391G>C ENSP00000473348.1:p.Arg464Pro
NM_001282587.1:c.1391G>C NP_001269516.1:p.Arg464Pro
NM_004285.3:c.1358G>C NP_004276.2:p.Arg453Pro
XM_005263539.3:c.1391G>C XP_005263596.1:p.Arg464Pro
XM_005263540.3:c.1385G>C XP_005263597.1:p.Arg462Pro
XM_006711052.2:c.1358G>C XP_006711115.1:p.Arg453Pro
XM_011542446.1:c.1358G>C XP_011540748.1:p.Arg453Pro
XM_005263540.5:c.1385G>C XP_005263597.1:p.Arg462Pro
XM_006711052.4:c.1358G>C XP_006711115.1:p.Arg453Pro
XM_017002865.2:c.1358G>C XP_016858354.1:p.Arg453Pro
XM_017002866.2:c.290G>C XP_016858355.1:p.Arg97Pro
NM_001282587.2:c.1391G>C NP_001269516.1:p.Arg464Pro
NM_004285.4:c.1358G>C MANE Select NP_004276.2:p.Arg453Pro
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