Canonical Allele Identifier: CA416031351

Gene: H6PD

Linked Data

• dbSNP Id: rs1186182464
• gnomAD v2: 1-9324220-C-T
• gnomAD v3: 1-9264161-C-T
• gnomAD v4: 1-9264161-C-T
• MyVariant Identifiers: chr1:g.9324220C>T (hg19) ; chr1:g.9264161C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.9264161C>T , CM000663.2:g.9264161C>T	GRCh38
NC_000001.10:g.9324220C>T , CM000663.1:g.9324220C>T	GRCh37
NC_000001.9:g.9246807C>T	NCBI36
NG_012218.1:g.34358C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000377403.7:c.1668C>T MANE Select	ENSP00000366620.2:p.Val556=
ENST00000377403.6:c.1668C>T	ENSP00000366620.1:p.Val556=
ENST00000602477.1:c.1701C>T	ENSP00000473348.1:p.Val567=
NM_001282587.1:c.1701C>T	NP_001269516.1:p.Val567=
NM_004285.3:c.1668C>T	NP_004276.2:p.Val556=
XM_005263539.3:c.1701C>T	XP_005263596.1:p.Val567=
XM_005263540.3:c.1695C>T	XP_005263597.1:p.Val565=
XM_006711052.2:c.1668C>T	XP_006711115.1:p.Val556=
XM_011542446.1:c.1668C>T	XP_011540748.1:p.Val556=
XM_005263540.5:c.1695C>T	XP_005263597.1:p.Val565=
XM_006711052.4:c.1668C>T	XP_006711115.1:p.Val556=
XM_017002865.2:c.1668C>T	XP_016858354.1:p.Val556=
XM_017002866.2:c.600C>T	XP_016858355.1:p.Val200=
NM_001282587.2:c.1701C>T	NP_001269516.1:p.Val567=
NM_004285.4:c.1668C>T MANE Select	NP_004276.2:p.Val556=