Canonical Allele Identifier: CA1152694311

Gene: H6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.9264258C= , CM000663.2:g.9264258C=	GRCh38
NC_000001.10:g.9324317C= , CM000663.1:g.9324317C=	GRCh37
NC_000001.9:g.9246904C=	NCBI36
NG_012218.1:g.34455C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377403.7:c.1765C= MANE Select	ENSP00000366620.2:p.Leu589=
ENST00000377403.6:c.1765C=	ENSP00000366620.1:p.Leu589=
ENST00000602477.1:c.1798C=	ENSP00000473348.1:p.Leu600=
NM_001282587.1:c.1798C=	NP_001269516.1:p.Leu600=
NM_004285.3:c.1765C=	NP_004276.2:p.Leu589=
XM_005263539.3:c.1798C=	XP_005263596.1:p.Leu600=
XM_005263540.3:c.1792C=	XP_005263597.1:p.Leu598=
XM_006711052.2:c.1765C=	XP_006711115.1:p.Leu589=
XM_011542446.1:c.1765C=	XP_011540748.1:p.Leu589=
XM_005263540.5:c.1792C=	XP_005263597.1:p.Leu598=
XM_006711052.4:c.1765C=	XP_006711115.1:p.Leu589=
XM_017002865.2:c.1765C=	XP_016858354.1:p.Leu589=
XM_017002866.2:c.697C=	XP_016858355.1:p.Leu233=
NM_001282587.2:c.1798C=	NP_001269516.1:p.Leu600=
NM_004285.4:c.1765C= MANE Select	NP_004276.2:p.Leu589=