Canonical Allele Identifier: CA416031661

Gene: H6PD

Linked Data

• dbSNP Id: rs1260917151
• gnomAD v2: 1-9324052-C-T
• gnomAD v4: 1-9263993-C-T
• MyVariant Identifiers: chr1:g.9324052C>T (hg19) ; chr1:g.9263993C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.9263993C>T , CM000663.2:g.9263993C>T	GRCh38
NC_000001.10:g.9324052C>T , CM000663.1:g.9324052C>T	GRCh37
NC_000001.9:g.9246639C>T	NCBI36
NG_012218.1:g.34190C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377403.7:c.1500C>T MANE Select	ENSP00000366620.2:p.Leu500=
ENST00000377403.6:c.1500C>T	ENSP00000366620.1:p.Leu500=
ENST00000602477.1:c.1533C>T	ENSP00000473348.1:p.Leu511=
NM_001282587.1:c.1533C>T	NP_001269516.1:p.Leu511=
NM_004285.3:c.1500C>T	NP_004276.2:p.Leu500=
XM_005263539.3:c.1533C>T	XP_005263596.1:p.Leu511=
XM_005263540.3:c.1527C>T	XP_005263597.1:p.Leu509=
XM_006711052.2:c.1500C>T	XP_006711115.1:p.Leu500=
XM_011542446.1:c.1500C>T	XP_011540748.1:p.Leu500=
XM_005263540.5:c.1527C>T	XP_005263597.1:p.Leu509=
XM_006711052.4:c.1500C>T	XP_006711115.1:p.Leu500=
XM_017002865.2:c.1500C>T	XP_016858354.1:p.Leu500=
XM_017002866.2:c.432C>T	XP_016858355.1:p.Leu144=
NM_001282587.2:c.1533C>T	NP_001269516.1:p.Leu511=
NM_004285.4:c.1500C>T MANE Select	NP_004276.2:p.Leu500=