Canonical Allele Identifier: CA338193527

Gene: H6PD

Linked Data

• gnomAD v4: 1-9264165-G-T
• MyVariant Identifiers: chr1:g.9324224G>T (hg19) ; chr1:g.9264165G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.9264165G>T , CM000663.2:g.9264165G>T	GRCh38
NC_000001.10:g.9324224G>T , CM000663.1:g.9324224G>T	GRCh37
NC_000001.9:g.9246811G>T	NCBI36
NG_012218.1:g.34362G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377403.7:c.1672G>T MANE Select	ENSP00000366620.2:p.Ala558Ser
ENST00000377403.6:c.1672G>T	ENSP00000366620.1:p.Ala558Ser
ENST00000602477.1:c.1705G>T	ENSP00000473348.1:p.Ala569Ser
NM_001282587.1:c.1705G>T	NP_001269516.1:p.Ala569Ser
NM_004285.3:c.1672G>T	NP_004276.2:p.Ala558Ser
XM_005263539.3:c.1705G>T	XP_005263596.1:p.Ala569Ser
XM_005263540.3:c.1699G>T	XP_005263597.1:p.Ala567Ser
XM_006711052.2:c.1672G>T	XP_006711115.1:p.Ala558Ser
XM_011542446.1:c.1672G>T	XP_011540748.1:p.Ala558Ser
XM_005263540.5:c.1699G>T	XP_005263597.1:p.Ala567Ser
XM_006711052.4:c.1672G>T	XP_006711115.1:p.Ala558Ser
XM_017002865.2:c.1672G>T	XP_016858354.1:p.Ala558Ser
XM_017002866.2:c.604G>T	XP_016858355.1:p.Ala202Ser
NM_001282587.2:c.1705G>T	NP_001269516.1:p.Ala569Ser
NM_004285.4:c.1672G>T MANE Select	NP_004276.2:p.Ala558Ser