Canonical Allele Identifier: CA338193672

Gene: H6PD

Linked Data

• gnomAD v4: 1-9264239-T-G
• MyVariant Identifiers: chr1:g.9324298T>G (hg19) ; chr1:g.9264239T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.9264239T>G , CM000663.2:g.9264239T>G	GRCh38
NC_000001.10:g.9324298T>G , CM000663.1:g.9324298T>G	GRCh37
NC_000001.9:g.9246885T>G	NCBI36
NG_012218.1:g.34436T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377403.7:c.1746T>G MANE Select	ENSP00000366620.2:p.Phe582Leu
ENST00000377403.6:c.1746T>G	ENSP00000366620.1:p.Phe582Leu
ENST00000602477.1:c.1779T>G	ENSP00000473348.1:p.Phe593Leu
NM_001282587.1:c.1779T>G	NP_001269516.1:p.Phe593Leu
NM_004285.3:c.1746T>G	NP_004276.2:p.Phe582Leu
XM_005263539.3:c.1779T>G	XP_005263596.1:p.Phe593Leu
XM_005263540.3:c.1773T>G	XP_005263597.1:p.Phe591Leu
XM_006711052.2:c.1746T>G	XP_006711115.1:p.Phe582Leu
XM_011542446.1:c.1746T>G	XP_011540748.1:p.Phe582Leu
XM_005263540.5:c.1773T>G	XP_005263597.1:p.Phe591Leu
XM_006711052.4:c.1746T>G	XP_006711115.1:p.Phe582Leu
XM_017002865.2:c.1746T>G	XP_016858354.1:p.Phe582Leu
XM_017002866.2:c.678T>G	XP_016858355.1:p.Phe226Leu
NM_001282587.2:c.1779T>G	NP_001269516.1:p.Phe593Leu
NM_004285.4:c.1746T>G MANE Select	NP_004276.2:p.Phe582Leu