Canonical Allele Identifier: CA1152694158

Gene: H6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.9264222C= , CM000663.2:g.9264222C=	GRCh38
NC_000001.10:g.9324281C= , CM000663.1:g.9324281C=	GRCh37
NC_000001.9:g.9246868C=	NCBI36
NG_012218.1:g.34419C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377403.7:c.1729C= MANE Select	ENSP00000366620.2:p.Arg577=
ENST00000377403.6:c.1729C=	ENSP00000366620.1:p.Arg577=
ENST00000602477.1:c.1762C=	ENSP00000473348.1:p.Arg588=
NM_001282587.1:c.1762C=	NP_001269516.1:p.Arg588=
NM_004285.3:c.1729C=	NP_004276.2:p.Arg577=
XM_005263539.3:c.1762C=	XP_005263596.1:p.Arg588=
XM_005263540.3:c.1756C=	XP_005263597.1:p.Arg586=
XM_006711052.2:c.1729C=	XP_006711115.1:p.Arg577=
XM_011542446.1:c.1729C=	XP_011540748.1:p.Arg577=
XM_005263540.5:c.1756C=	XP_005263597.1:p.Arg586=
XM_006711052.4:c.1729C=	XP_006711115.1:p.Arg577=
XM_017002865.2:c.1729C=	XP_016858354.1:p.Arg577=
XM_017002866.2:c.661C=	XP_016858355.1:p.Arg221=
NM_001282587.2:c.1762C=	NP_001269516.1:p.Arg588=
NM_004285.4:c.1729C= MANE Select	NP_004276.2:p.Arg577=