Canonical Allele Identifier: CA575345

Gene: H6PD

Linked Data

• dbSNP Id: rs760876135
• ExAC: 1:9324116 T / C
• gnomAD v2: 1-9324116-T-C
• gnomAD v4: 1-9264057-T-C
• MyVariant Identifiers: chr1:g.9324116T>C (hg19) ; chr1:g.9264057T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.9264057T>C , CM000663.2:g.9264057T>C	GRCh38
NC_000001.10:g.9324116T>C , CM000663.1:g.9324116T>C	GRCh37
NC_000001.9:g.9246703T>C	NCBI36
NG_012218.1:g.34254T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377403.7:c.1564T>C MANE Select	ENSP00000366620.2:p.Phe522Leu
ENST00000377403.6:c.1564T>C	ENSP00000366620.1:p.Phe522Leu
ENST00000602477.1:c.1597T>C	ENSP00000473348.1:p.Phe533Leu
NM_001282587.1:c.1597T>C	NP_001269516.1:p.Phe533Leu
NM_004285.3:c.1564T>C	NP_004276.2:p.Phe522Leu
XM_005263539.3:c.1597T>C	XP_005263596.1:p.Phe533Leu
XM_005263540.3:c.1591T>C	XP_005263597.1:p.Phe531Leu
XM_006711052.2:c.1564T>C	XP_006711115.1:p.Phe522Leu
XM_011542446.1:c.1564T>C	XP_011540748.1:p.Phe522Leu
XM_005263540.5:c.1591T>C	XP_005263597.1:p.Phe531Leu
XM_006711052.4:c.1564T>C	XP_006711115.1:p.Phe522Leu
XM_017002865.2:c.1564T>C	XP_016858354.1:p.Phe522Leu
XM_017002866.2:c.496T>C	XP_016858355.1:p.Phe166Leu
NM_001282587.2:c.1597T>C	NP_001269516.1:p.Phe533Leu
NM_004285.4:c.1564T>C MANE Select	NP_004276.2:p.Phe522Leu