Canonical Allele Identifier: CA415233877

Gene: G6PD

Linked Data

• gnomAD v3: X-154532602-A-C
• gnomAD v4: X-154532602-A-C
• MyVariant Identifiers: chrX:g.153760817A>C (hg19) ; chrX:g.154532602A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532602A>C , CM000685.2:g.154532602A>C	GRCh38
NC_000023.10:g.153760817A>C , CM000685.1:g.153760817A>C	GRCh37
NC_000023.9:g.153414011A>C	NCBI36
NG_009015.2:g.19971T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.1252T>G	ENSP00000377194.2:p.Ser418Ala
ENST00000439227.6:c.1255T>G	ENSP00000395599.2:p.Ser419Ala
ENST00000696420.1:c.1252T>G	ENSP00000512615.1:p.Ser418Ala
ENST00000696421.1:c.1252T>G	ENSP00000512616.1:p.Ser418Ala
ENST00000696422.1:c.1115T>G
ENST00000696423.1:c.1118T>G
ENST00000696424.1:c.1104T>G	ENSP00000512619.1:n.1104T>G
ENST00000696425.1:c.*165T>G	ENSP00000512620.1:n.*165T>G
ENST00000696426.1:c.*712T>G	ENSP00000512621.1:n.*712T>G
ENST00000696427.1:c.*212T>G	ENSP00000512622.1:n.*212T>G
ENST00000696428.1:c.*1094T>G	ENSP00000512623.1:n.*1094T>G
ENST00000696429.1:c.1252T>G	ENSP00000512624.1:p.Ser418Ala
ENST00000696430.1:c.1252T>G	ENSP00000512625.1:p.Ser418Ala
ENST00000393562.10:c.1252T>G MANE Select	ENSP00000377192.3:p.Ser418Ala
ENST00000369620.6:c.1390T>G	ENSP00000358633.2:p.Ser464Ala
ENST00000393562.6:c.1342T>G	ENSP00000377192.2:p.Ser448Ala
ENST00000393564.6:c.1252T>G	ENSP00000377194.2:p.Ser418Ala
ENST00000490651.1:n.473T>G
ENST00000621232.4:c.1252T>G	ENSP00000483686.1:p.Ser418Ala
NM_000402.4:c.1342T>G	NP_000393.4:p.Ser448Ala
NM_001042351.2:c.1252T>G	NP_001035810.1:p.Ser418Ala
XM_005274657.2:c.1345T>G	XP_005274714.1:p.Ser449Ala
XM_005274658.2:c.1255T>G	XP_005274715.1:p.Ser419Ala
XM_011531132.1:c.*165T>G	XP_011529434.1:n.*165T>G
NM_001360016.2:c.1252T>G MANE Select	NP_001346945.1:p.Ser418Ala
NM_001042351.3:c.1252T>G	NP_001035810.1:p.Ser418Ala