Canonical Allele Identifier: CA236373

Gene: H6PD

Linked Data

• ClinVar Variation Id: 191261
• ClinVar RCV Id: RCV000171451 ; RCV000986230
• dbSNP Id: rs12032814
• gnomAD v2: 1-9307230-T-A
• gnomAD v3: 1-9247171-T-A
• gnomAD v4: 1-9247171-T-A
• MyVariant Identifiers: chr1:g.9307230T>A (hg19) ; chr1:g.9247171T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.9247171T>A , CM000663.2:g.9247171T>A	GRCh38
NC_000001.10:g.9307230T>A , CM000663.1:g.9307230T>A	GRCh37
NC_000001.9:g.9229817T>A	NCBI36
NG_012218.1:g.17368T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377403.7:c.745+88T>A MANE Select	ENSP00000366620.2:n.745+88T>A
ENST00000377403.6:c.745+88T>A	ENSP00000366620.1:n.745+88T>A
ENST00000602477.1:c.778+88T>A	ENSP00000473348.1:n.778+88T>A
NM_001282587.1:c.778+88T>A	NP_001269516.1:n.778+88T>A
NM_004285.3:c.745+88T>A	NP_004276.2:n.745+88T>A
XM_005263539.3:c.778+88T>A	XP_005263596.1:n.778+88T>A
XM_005263540.3:c.772+88T>A	XP_005263597.1:n.772+88T>A
XM_006711052.2:c.745+88T>A	XP_006711115.1:n.745+88T>A
XM_011542446.1:c.745+88T>A	XP_011540748.1:n.745+88T>A
XM_005263540.5:c.772+88T>A	XP_005263597.1:n.772+88T>A
XM_006711052.4:c.745+88T>A	XP_006711115.1:n.745+88T>A
XM_017002865.2:c.745+88T>A	XP_016858354.1:n.745+88T>A
XM_017002866.2:c.-266+88T>A	XP_016858355.1:n.-266+88T>A
NM_001282587.2:c.778+88T>A	NP_001269516.1:n.778+88T>A
NM_004285.4:c.745+88T>A MANE Select	NP_004276.2:n.745+88T>A