Canonical Allele Identifier: CA338193628

Gene: H6PD

Linked Data

• dbSNP Id: rs1398006120
• gnomAD v2: 1-9324272-A-G
• gnomAD v4: 1-9264213-A-G
• MyVariant Identifiers: chr1:g.9324272A>G (hg19) ; chr1:g.9264213A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.9264213A>G , CM000663.2:g.9264213A>G	GRCh38
NC_000001.10:g.9324272A>G , CM000663.1:g.9324272A>G	GRCh37
NC_000001.9:g.9246859A>G	NCBI36
NG_012218.1:g.34410A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377403.7:c.1720A>G MANE Select	ENSP00000366620.2:p.Thr574Ala
ENST00000377403.6:c.1720A>G	ENSP00000366620.1:p.Thr574Ala
ENST00000602477.1:c.1753A>G	ENSP00000473348.1:p.Thr585Ala
NM_001282587.1:c.1753A>G	NP_001269516.1:p.Thr585Ala
NM_004285.3:c.1720A>G	NP_004276.2:p.Thr574Ala
XM_005263539.3:c.1753A>G	XP_005263596.1:p.Thr585Ala
XM_005263540.3:c.1747A>G	XP_005263597.1:p.Thr583Ala
XM_006711052.2:c.1720A>G	XP_006711115.1:p.Thr574Ala
XM_011542446.1:c.1720A>G	XP_011540748.1:p.Thr574Ala
XM_005263540.5:c.1747A>G	XP_005263597.1:p.Thr583Ala
XM_006711052.4:c.1720A>G	XP_006711115.1:p.Thr574Ala
XM_017002865.2:c.1720A>G	XP_016858354.1:p.Thr574Ala
XM_017002866.2:c.652A>G	XP_016858355.1:p.Thr218Ala
NM_001282587.2:c.1753A>G	NP_001269516.1:p.Thr585Ala
NM_004285.4:c.1720A>G MANE Select	NP_004276.2:p.Thr574Ala