Canonical Allele Identifier: CA415234005

Gene: G6PD

Linked Data

• MyVariant Identifiers: chrX:g.153760870A>C (hg19) ; chrX:g.154532655A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532655A>C , CM000685.2:g.154532655A>C	GRCh38
NC_000023.10:g.153760870A>C , CM000685.1:g.153760870A>C	GRCh37
NC_000023.9:g.153414064A>C	NCBI36
NG_009015.2:g.19918T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1199T>G	ENSP00000377194.2:p.Val400Gly
ENST00000439227.6:c.1202T>G	ENSP00000395599.2:p.Val401Gly
ENST00000696420.1:c.1199T>G	ENSP00000512615.1:p.Val400Gly
ENST00000696421.1:c.1199T>G	ENSP00000512616.1:p.Val400Gly
ENST00000696422.1:c.1062T>G
ENST00000696423.1:c.1065T>G
ENST00000696424.1:c.1051T>G	ENSP00000512619.1:n.1051T>G
ENST00000696425.1:c.*112T>G	ENSP00000512620.1:n.*112T>G
ENST00000696426.1:c.*659T>G	ENSP00000512621.1:n.*659T>G
ENST00000696427.1:c.*159T>G	ENSP00000512622.1:n.*159T>G
ENST00000696428.1:c.*1041T>G	ENSP00000512623.1:n.*1041T>G
ENST00000696429.1:c.1199T>G	ENSP00000512624.1:p.Val400Gly
ENST00000696430.1:c.1199T>G	ENSP00000512625.1:p.Val400Gly
ENST00000393562.10:c.1199T>G MANE Select	ENSP00000377192.3:p.Val400Gly
ENST00000369620.6:c.1337T>G	ENSP00000358633.2:p.Val446Gly
ENST00000393562.6:c.1289T>G	ENSP00000377192.2:p.Val430Gly
ENST00000393564.6:c.1199T>G	ENSP00000377194.2:p.Val400Gly
ENST00000490651.1:n.420T>G
ENST00000621232.4:c.1199T>G	ENSP00000483686.1:p.Val400Gly
NM_000402.4:c.1289T>G	NP_000393.4:p.Val430Gly
NM_001042351.2:c.1199T>G	NP_001035810.1:p.Val400Gly
XM_005274657.2:c.1292T>G	XP_005274714.1:p.Val431Gly
XM_005274658.2:c.1202T>G	XP_005274715.1:p.Val401Gly
XM_011531132.1:c.*112T>G	XP_011529434.1:n.*112T>G
NM_001360016.2:c.1199T>G MANE Select	NP_001346945.1:p.Val400Gly
NM_001042351.3:c.1199T>G	NP_001035810.1:p.Val400Gly