Canonical Allele Identifier: CA338193206
Gene: H6PD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.9264010A>G , CM000663.2:g.9264010A>G GRCh38
NC_000001.10:g.9324069A>G , CM000663.1:g.9324069A>G GRCh37
NC_000001.9:g.9246656A>G NCBI36
NG_012218.1:g.34207A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000377403.7:c.1517A>G MANE Select ENSP00000366620.2:p.Glu506Gly
ENST00000377403.6:c.1517A>G ENSP00000366620.1:p.Glu506Gly
ENST00000602477.1:c.1550A>G ENSP00000473348.1:p.Glu517Gly
NM_001282587.1:c.1550A>G NP_001269516.1:p.Glu517Gly
NM_004285.3:c.1517A>G NP_004276.2:p.Glu506Gly
XM_005263539.3:c.1550A>G XP_005263596.1:p.Glu517Gly
XM_005263540.3:c.1544A>G XP_005263597.1:p.Glu515Gly
XM_006711052.2:c.1517A>G XP_006711115.1:p.Glu506Gly
XM_011542446.1:c.1517A>G XP_011540748.1:p.Glu506Gly
XM_005263540.5:c.1544A>G XP_005263597.1:p.Glu515Gly
XM_006711052.4:c.1517A>G XP_006711115.1:p.Glu506Gly
XM_017002865.2:c.1517A>G XP_016858354.1:p.Glu506Gly
XM_017002866.2:c.449A>G XP_016858355.1:p.Glu150Gly
NM_001282587.2:c.1550A>G NP_001269516.1:p.Glu517Gly
NM_004285.4:c.1517A>G MANE Select NP_004276.2:p.Glu506Gly