Canonical Allele Identifier: CA338193467

Gene: H6PD

Linked Data

• dbSNP Id: rs771065990
• gnomAD v2: 1-9324194-G-C
• gnomAD v4: 1-9264135-G-C
• MyVariant Identifiers: chr1:g.9324194G>C (hg19) ; chr1:g.9264135G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.9264135G>C , CM000663.2:g.9264135G>C	GRCh38
NC_000001.10:g.9324194G>C , CM000663.1:g.9324194G>C	GRCh37
NC_000001.9:g.9246781G>C	NCBI36
NG_012218.1:g.34332G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377403.7:c.1642G>C MANE Select	ENSP00000366620.2:p.Ala548Pro
ENST00000377403.6:c.1642G>C	ENSP00000366620.1:p.Ala548Pro
ENST00000602477.1:c.1675G>C	ENSP00000473348.1:p.Ala559Pro
NM_001282587.1:c.1675G>C	NP_001269516.1:p.Ala559Pro
NM_004285.3:c.1642G>C	NP_004276.2:p.Ala548Pro
XM_005263539.3:c.1675G>C	XP_005263596.1:p.Ala559Pro
XM_005263540.3:c.1669G>C	XP_005263597.1:p.Ala557Pro
XM_006711052.2:c.1642G>C	XP_006711115.1:p.Ala548Pro
XM_011542446.1:c.1642G>C	XP_011540748.1:p.Ala548Pro
XM_005263540.5:c.1669G>C	XP_005263597.1:p.Ala557Pro
XM_006711052.4:c.1642G>C	XP_006711115.1:p.Ala548Pro
XM_017002865.2:c.1642G>C	XP_016858354.1:p.Ala548Pro
XM_017002866.2:c.574G>C	XP_016858355.1:p.Ala192Pro
NM_001282587.2:c.1675G>C	NP_001269516.1:p.Ala559Pro
NM_004285.4:c.1642G>C MANE Select	NP_004276.2:p.Ala548Pro