Canonical Allele Identifier: CA575319

Gene: H6PD

Linked Data

• dbSNP Id: rs375476128
• ExAC: 1:9324058 T / C
• gnomAD v2: 1-9324058-T-C
• gnomAD v3: 1-9263999-T-C
• gnomAD v4: 1-9263999-T-C
• MyVariant Identifiers: chr1:g.9324058T>C (hg19) ; chr1:g.9263999T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.9263999T>C , CM000663.2:g.9263999T>C	GRCh38
NC_000001.10:g.9324058T>C , CM000663.1:g.9324058T>C	GRCh37
NC_000001.9:g.9246645T>C	NCBI36
NG_012218.1:g.34196T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377403.7:c.1506T>C MANE Select	ENSP00000366620.2:p.Pro502=
ENST00000377403.6:c.1506T>C	ENSP00000366620.1:p.Pro502=
ENST00000602477.1:c.1539T>C	ENSP00000473348.1:p.Pro513=
NM_001282587.1:c.1539T>C	NP_001269516.1:p.Pro513=
NM_004285.3:c.1506T>C	NP_004276.2:p.Pro502=
XM_005263539.3:c.1539T>C	XP_005263596.1:p.Pro513=
XM_005263540.3:c.1533T>C	XP_005263597.1:p.Pro511=
XM_006711052.2:c.1506T>C	XP_006711115.1:p.Pro502=
XM_011542446.1:c.1506T>C	XP_011540748.1:p.Pro502=
XM_005263540.5:c.1533T>C	XP_005263597.1:p.Pro511=
XM_006711052.4:c.1506T>C	XP_006711115.1:p.Pro502=
XM_017002865.2:c.1506T>C	XP_016858354.1:p.Pro502=
XM_017002866.2:c.438T>C	XP_016858355.1:p.Pro146=
NM_001282587.2:c.1539T>C	NP_001269516.1:p.Pro513=
NM_004285.4:c.1506T>C MANE Select	NP_004276.2:p.Pro502=