Canonical Allele Identifier: CA415234262

Gene: G6PD

Linked Data

• MyVariant Identifiers: chrX:g.153760985G>C (hg19) ; chrX:g.154532770G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532770G>C , CM000685.2:g.154532770G>C	GRCh38
NC_000023.10:g.153760985G>C , CM000685.1:g.153760985G>C	GRCh37
NC_000023.9:g.153414179G>C	NCBI36
NG_009015.2:g.19803C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1084C>G	ENSP00000377194.2:p.Leu362Val
ENST00000439227.6:c.1087C>G	ENSP00000395599.2:p.Leu363Val
ENST00000696420.1:c.1084C>G	ENSP00000512615.1:p.Leu362Val
ENST00000696421.1:c.1084C>G	ENSP00000512616.1:p.Leu362Val
ENST00000696422.1:c.947C>G
ENST00000696423.1:c.950C>G
ENST00000696424.1:c.936C>G	ENSP00000512619.1:n.936C>G
ENST00000696425.1:c.897C>G	ENSP00000512620.1:p.Pro299=
ENST00000696426.1:c.*544C>G	ENSP00000512621.1:n.*544C>G
ENST00000696427.1:c.*44C>G	ENSP00000512622.1:n.*44C>G
ENST00000696428.1:c.*926C>G	ENSP00000512623.1:n.*926C>G
ENST00000696429.1:c.1084C>G	ENSP00000512624.1:p.Leu362Val
ENST00000696430.1:c.1084C>G	ENSP00000512625.1:p.Leu362Val
ENST00000393562.10:c.1084C>G MANE Select	ENSP00000377192.3:p.Leu362Val
ENST00000369620.6:c.1222C>G	ENSP00000358633.2:p.Leu408Val
ENST00000393562.6:c.1174C>G	ENSP00000377192.2:p.Leu392Val
ENST00000393564.6:c.1084C>G	ENSP00000377194.2:p.Leu362Val
ENST00000490651.1:n.305C>G
ENST00000621232.4:c.1084C>G	ENSP00000483686.1:p.Leu362Val
NM_000402.4:c.1174C>G	NP_000393.4:p.Leu392Val
NM_001042351.2:c.1084C>G	NP_001035810.1:p.Leu362Val
XM_005274657.2:c.1177C>G	XP_005274714.1:p.Leu393Val
XM_005274658.2:c.1087C>G	XP_005274715.1:p.Leu363Val
XM_011531132.1:c.990C>G	XP_011529434.1:p.Pro330=
NM_001360016.2:c.1084C>G MANE Select	NP_001346945.1:p.Leu362Val
NM_001042351.3:c.1084C>G	NP_001035810.1:p.Leu362Val