Canonical Allele Identifier: CA575373

Gene: H6PD

Linked Data

• dbSNP Id: rs17368528
• ExAC: 1:9324213 C / A
• MyVariant Identifiers: chr1:g.9324213C>A (hg19) ; chr1:g.9264154C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.9264154C>A , CM000663.2:g.9264154C>A	GRCh38
NC_000001.10:g.9324213C>A , CM000663.1:g.9324213C>A	GRCh37
NC_000001.9:g.9246800C>A	NCBI36
NG_012218.1:g.34351C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000377403.7:c.1661C>A MANE Select	ENSP00000366620.2:p.Pro554Gln
ENST00000377403.6:c.1661C>A	ENSP00000366620.1:p.Pro554Gln
ENST00000602477.1:c.1694C>A	ENSP00000473348.1:p.Pro565Gln
NM_001282587.1:c.1694C>A	NP_001269516.1:p.Pro565Gln
NM_004285.3:c.1661C>A	NP_004276.2:p.Pro554Gln
XM_005263539.3:c.1694C>A	XP_005263596.1:p.Pro565Gln
XM_005263540.3:c.1688C>A	XP_005263597.1:p.Pro563Gln
XM_006711052.2:c.1661C>A	XP_006711115.1:p.Pro554Gln
XM_011542446.1:c.1661C>A	XP_011540748.1:p.Pro554Gln
XM_005263540.5:c.1688C>A	XP_005263597.1:p.Pro563Gln
XM_006711052.4:c.1661C>A	XP_006711115.1:p.Pro554Gln
XM_017002865.2:c.1661C>A	XP_016858354.1:p.Pro554Gln
XM_017002866.2:c.593C>A	XP_016858355.1:p.Pro198Gln
NM_001282587.2:c.1694C>A	NP_001269516.1:p.Pro565Gln
NM_004285.4:c.1661C>A MANE Select	NP_004276.2:p.Pro554Gln