Canonical Allele Identifier: CA575338

Gene: H6PD

Linked Data

• ClinVar Variation Id: 2738371
• ClinVar RCV Id: RCV003562590 ; RCV004369289
• dbSNP Id: rs147469469
• ExAC: 1:9324104 G / A
• gnomAD v2: 1-9324104-G-A
• gnomAD v3: 1-9264045-G-A
• gnomAD v4: 1-9264045-G-A
• MyVariant Identifiers: chr1:g.9324104G>A (hg19) ; chr1:g.9264045G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.9264045G>A , CM000663.2:g.9264045G>A	GRCh38
NC_000001.10:g.9324104G>A , CM000663.1:g.9324104G>A	GRCh37
NC_000001.9:g.9246691G>A	NCBI36
NG_012218.1:g.34242G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377403.7:c.1552G>A MANE Select	ENSP00000366620.2:p.Gly518Ser
ENST00000377403.6:c.1552G>A	ENSP00000366620.1:p.Gly518Ser
ENST00000602477.1:c.1585G>A	ENSP00000473348.1:p.Gly529Ser
NM_001282587.1:c.1585G>A	NP_001269516.1:p.Gly529Ser
NM_004285.3:c.1552G>A	NP_004276.2:p.Gly518Ser
XM_005263539.3:c.1585G>A	XP_005263596.1:p.Gly529Ser
XM_005263540.3:c.1579G>A	XP_005263597.1:p.Gly527Ser
XM_006711052.2:c.1552G>A	XP_006711115.1:p.Gly518Ser
XM_011542446.1:c.1552G>A	XP_011540748.1:p.Gly518Ser
XM_005263540.5:c.1579G>A	XP_005263597.1:p.Gly527Ser
XM_006711052.4:c.1552G>A	XP_006711115.1:p.Gly518Ser
XM_017002865.2:c.1552G>A	XP_016858354.1:p.Gly518Ser
XM_017002866.2:c.484G>A	XP_016858355.1:p.Gly162Ser
NM_001282587.2:c.1585G>A	NP_001269516.1:p.Gly529Ser
NM_004285.4:c.1552G>A MANE Select	NP_004276.2:p.Gly518Ser