Canonical Allele Identifier: CA415232171

Gene: G6PD

Linked Data

• gnomAD v4: X-154532090-G-T
• MyVariant Identifiers: chrX:g.153760305G>T (hg19) ; chrX:g.154532090G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532090G>T , CM000685.2:g.154532090G>T	GRCh38
NC_000023.10:g.153760305G>T , CM000685.1:g.153760305G>T	GRCh37
NC_000023.9:g.153413499G>T	NCBI36
NG_009015.2:g.20483C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1458C>A	ENSP00000377194.2:p.Ser486Arg
ENST00000439227.6:c.1461C>A	ENSP00000395599.2:p.Ser487Arg
ENST00000696420.1:c.1457+98C>A	ENSP00000512615.1:n.1457+98C>A
ENST00000696421.1:c.1457+98C>A	ENSP00000512616.1:n.1457+98C>A
ENST00000696422.1:c.1321C>A
ENST00000696423.1:c.1324C>A
ENST00000696424.1:c.1310C>A	ENSP00000512619.1:n.1310C>A
ENST00000696425.1:c.*371C>A	ENSP00000512620.1:n.*371C>A
ENST00000696426.1:c.*918C>A	ENSP00000512621.1:n.*918C>A
ENST00000696427.1:c.*418C>A	ENSP00000512622.1:n.*418C>A
ENST00000696428.1:c.*1300C>A	ENSP00000512623.1:n.*1300C>A
ENST00000696429.1:c.1458C>A	ENSP00000512624.1:p.Ser486Arg
ENST00000696430.1:c.1458C>A	ENSP00000512625.1:p.Ser486Arg
ENST00000393562.10:c.1458C>A MANE Select	ENSP00000377192.3:p.Ser486Arg
ENST00000369620.6:c.1596C>A	ENSP00000358633.2:p.Ser532Arg
ENST00000393562.6:c.1548C>A	ENSP00000377192.2:p.Ser516Arg
ENST00000393564.6:c.1458C>A	ENSP00000377194.2:p.Ser486Arg
ENST00000490651.1:n.776C>A
ENST00000621232.4:c.1458C>A	ENSP00000483686.1:p.Ser486Arg
NM_000402.4:c.1548C>A	NP_000393.4:p.Ser516Arg
NM_001042351.2:c.1458C>A	NP_001035810.1:p.Ser486Arg
XM_005274657.2:c.1551C>A	XP_005274714.1:p.Ser517Arg
XM_005274658.2:c.1461C>A	XP_005274715.1:p.Ser487Arg
NM_001360016.2:c.1458C>A MANE Select	NP_001346945.1:p.Ser486Arg
NM_001042351.3:c.1458C>A	NP_001035810.1:p.Ser486Arg