Canonical Allele Identifier: CA415234205

Gene: G6PD

Linked Data

• MyVariant Identifiers: chrX:g.153760958G>C (hg19) ; chrX:g.154532743G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532743G>C , CM000685.2:g.154532743G>C	GRCh38
NC_000023.10:g.153760958G>C , CM000685.1:g.153760958G>C	GRCh37
NC_000023.9:g.153414152G>C	NCBI36
NG_009015.2:g.19830C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1111C>G	ENSP00000377194.2:p.Leu371Val
ENST00000439227.6:c.1114C>G	ENSP00000395599.2:p.Leu372Val
ENST00000696420.1:c.1111C>G	ENSP00000512615.1:p.Leu371Val
ENST00000696421.1:c.1111C>G	ENSP00000512616.1:p.Leu371Val
ENST00000696422.1:c.974C>G
ENST00000696423.1:c.977C>G
ENST00000696424.1:c.963C>G	ENSP00000512619.1:n.963C>G
ENST00000696425.1:c.*24C>G	ENSP00000512620.1:n.*24C>G
ENST00000696426.1:c.*571C>G	ENSP00000512621.1:n.*571C>G
ENST00000696427.1:c.*71C>G	ENSP00000512622.1:n.*71C>G
ENST00000696428.1:c.*953C>G	ENSP00000512623.1:n.*953C>G
ENST00000696429.1:c.1111C>G	ENSP00000512624.1:p.Leu371Val
ENST00000696430.1:c.1111C>G	ENSP00000512625.1:p.Leu371Val
ENST00000393562.10:c.1111C>G MANE Select	ENSP00000377192.3:p.Leu371Val
ENST00000369620.6:c.1249C>G	ENSP00000358633.2:p.Leu417Val
ENST00000393562.6:c.1201C>G	ENSP00000377192.2:p.Leu401Val
ENST00000393564.6:c.1111C>G	ENSP00000377194.2:p.Leu371Val
ENST00000490651.1:n.332C>G
ENST00000621232.4:c.1111C>G	ENSP00000483686.1:p.Leu371Val
NM_000402.4:c.1201C>G	NP_000393.4:p.Leu401Val
NM_001042351.2:c.1111C>G	NP_001035810.1:p.Leu371Val
XM_005274657.2:c.1204C>G	XP_005274714.1:p.Leu402Val
XM_005274658.2:c.1114C>G	XP_005274715.1:p.Leu372Val
XM_011531132.1:c.*24C>G	XP_011529434.1:n.*24C>G
NM_001360016.2:c.1111C>G MANE Select	NP_001346945.1:p.Leu371Val
NM_001042351.3:c.1111C>G	NP_001035810.1:p.Leu371Val