Canonical Allele Identifier: CA338193531

Gene: H6PD

Linked Data

• MyVariant Identifiers: chr1:g.9324227T>A (hg19) ; chr1:g.9264168T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.9264168T>A , CM000663.2:g.9264168T>A	GRCh38
NC_000001.10:g.9324227T>A , CM000663.1:g.9324227T>A	GRCh37
NC_000001.9:g.9246814T>A	NCBI36
NG_012218.1:g.34365T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000377403.7:c.1675T>A MANE Select	ENSP00000366620.2:p.Trp559Arg
ENST00000377403.6:c.1675T>A	ENSP00000366620.1:p.Trp559Arg
ENST00000602477.1:c.1708T>A	ENSP00000473348.1:p.Trp570Arg
NM_001282587.1:c.1708T>A	NP_001269516.1:p.Trp570Arg
NM_004285.3:c.1675T>A	NP_004276.2:p.Trp559Arg
XM_005263539.3:c.1708T>A	XP_005263596.1:p.Trp570Arg
XM_005263540.3:c.1702T>A	XP_005263597.1:p.Trp568Arg
XM_006711052.2:c.1675T>A	XP_006711115.1:p.Trp559Arg
XM_011542446.1:c.1675T>A	XP_011540748.1:p.Trp559Arg
XM_005263540.5:c.1702T>A	XP_005263597.1:p.Trp568Arg
XM_006711052.4:c.1675T>A	XP_006711115.1:p.Trp559Arg
XM_017002865.2:c.1675T>A	XP_016858354.1:p.Trp559Arg
XM_017002866.2:c.607T>A	XP_016858355.1:p.Trp203Arg
NM_001282587.2:c.1708T>A	NP_001269516.1:p.Trp570Arg
NM_004285.4:c.1675T>A MANE Select	NP_004276.2:p.Trp559Arg