Canonical Allele Identifier: CA338193619

Gene: H6PD

Linked Data

• gnomAD v4: 1-9264209-G-C
• MyVariant Identifiers: chr1:g.9324268G>C (hg19) ; chr1:g.9264209G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.9264209G>C , CM000663.2:g.9264209G>C	GRCh38
NC_000001.10:g.9324268G>C , CM000663.1:g.9324268G>C	GRCh37
NC_000001.9:g.9246855G>C	NCBI36
NG_012218.1:g.34406G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377403.7:c.1716G>C MANE Select	ENSP00000366620.2:p.Glu572Asp
ENST00000377403.6:c.1716G>C	ENSP00000366620.1:p.Glu572Asp
ENST00000602477.1:c.1749G>C	ENSP00000473348.1:p.Glu583Asp
NM_001282587.1:c.1749G>C	NP_001269516.1:p.Glu583Asp
NM_004285.3:c.1716G>C	NP_004276.2:p.Glu572Asp
XM_005263539.3:c.1749G>C	XP_005263596.1:p.Glu583Asp
XM_005263540.3:c.1743G>C	XP_005263597.1:p.Glu581Asp
XM_006711052.2:c.1716G>C	XP_006711115.1:p.Glu572Asp
XM_011542446.1:c.1716G>C	XP_011540748.1:p.Glu572Asp
XM_005263540.5:c.1743G>C	XP_005263597.1:p.Glu581Asp
XM_006711052.4:c.1716G>C	XP_006711115.1:p.Glu572Asp
XM_017002865.2:c.1716G>C	XP_016858354.1:p.Glu572Asp
XM_017002866.2:c.648G>C	XP_016858355.1:p.Glu216Asp
NM_001282587.2:c.1749G>C	NP_001269516.1:p.Glu583Asp
NM_004285.4:c.1716G>C MANE Select	NP_004276.2:p.Glu572Asp