Canonical Allele Identifier: CA575413
Gene: H6PD HGNC NCBI

Linked Data

dbSNP Id: rs139680845
gnomAD v2: 1-9324326-G-T
gnomAD v4: 1-9264267-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.9264267G>T , CM000663.2:g.9264267G>T GRCh38
NC_000001.10:g.9324326G>T , CM000663.1:g.9324326G>T GRCh37
NC_000001.9:g.9246913G>T NCBI36
NG_012218.1:g.34464G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377403.7:c.1774G>T MANE Select ENSP00000366620.2:p.Gly592Cys
ENST00000377403.6:c.1774G>T ENSP00000366620.1:p.Gly592Cys
ENST00000602477.1:c.1807G>T ENSP00000473348.1:p.Gly603Cys
NM_001282587.1:c.1807G>T NP_001269516.1:p.Gly603Cys
NM_004285.3:c.1774G>T NP_004276.2:p.Gly592Cys
XM_005263539.3:c.1807G>T XP_005263596.1:p.Gly603Cys
XM_005263540.3:c.1801G>T XP_005263597.1:p.Gly601Cys
XM_006711052.2:c.1774G>T XP_006711115.1:p.Gly592Cys
XM_011542446.1:c.1774G>T XP_011540748.1:p.Gly592Cys
XM_005263540.5:c.1801G>T XP_005263597.1:p.Gly601Cys
XM_006711052.4:c.1774G>T XP_006711115.1:p.Gly592Cys
XM_017002865.2:c.1774G>T XP_016858354.1:p.Gly592Cys
XM_017002866.2:c.706G>T XP_016858355.1:p.Gly236Cys
NM_001282587.2:c.1807G>T NP_001269516.1:p.Gly603Cys
NM_004285.4:c.1774G>T MANE Select NP_004276.2:p.Gly592Cys