Canonical Allele Identifier: CA415234538

Gene: G6PD

Linked Data

• gnomAD v4: X-154533026-G-C
• MyVariant Identifiers: chrX:g.153761241G>C (hg19) ; chrX:g.154533026G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154533026G>C , CM000685.2:g.154533026G>C	GRCh38
NC_000023.10:g.153761241G>C , CM000685.1:g.153761241G>C	GRCh37
NC_000023.9:g.153414435G>C	NCBI36
NG_009015.2:g.19547C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.967C>G	ENSP00000377194.2:p.Leu323Val
ENST00000439227.6:c.970C>G	ENSP00000395599.2:p.Leu324Val
ENST00000696420.1:c.967C>G	ENSP00000512615.1:p.Leu323Val
ENST00000696421.1:c.967C>G	ENSP00000512616.1:p.Leu323Val
ENST00000696422.1:c.830C>G
ENST00000696423.1:c.833C>G
ENST00000696424.1:c.819C>G	ENSP00000512619.1:n.819C>G
ENST00000696425.1:c.865-224C>G	ENSP00000512620.1:n.865-224C>G
ENST00000696426.1:c.*427C>G	ENSP00000512621.1:n.*427C>G
ENST00000696427.1:c.974C>G	ENSP00000512622.1:p.Pro325Arg
ENST00000696428.1:c.*809C>G	ENSP00000512623.1:n.*809C>G
ENST00000696429.1:c.967C>G	ENSP00000512624.1:p.Leu323Val
ENST00000696430.1:c.967C>G	ENSP00000512625.1:p.Leu323Val
ENST00000393562.10:c.967C>G MANE Select	ENSP00000377192.3:p.Leu323Val
ENST00000369620.6:c.1105C>G	ENSP00000358633.2:p.Leu369Val
ENST00000393562.6:c.1057C>G	ENSP00000377192.2:p.Leu353Val
ENST00000393564.6:c.967C>G	ENSP00000377194.2:p.Leu323Val
ENST00000439227.5:c.970C>G	ENSP00000395599.1:p.Leu324Val
ENST00000490651.1:n.49C>G
ENST00000621232.4:c.967C>G	ENSP00000483686.1:p.Leu323Val
NM_000402.4:c.1057C>G	NP_000393.4:p.Leu353Val
NM_001042351.2:c.967C>G	NP_001035810.1:p.Leu323Val
XM_005274657.2:c.1060C>G	XP_005274714.1:p.Leu354Val
XM_005274658.2:c.970C>G	XP_005274715.1:p.Leu324Val
XM_011531132.1:c.958-224C>G	XP_011529434.1:n.958-224C>G
NM_001360016.2:c.967C>G MANE Select	NP_001346945.1:p.Leu323Val
NM_001042351.3:c.967C>G	NP_001035810.1:p.Leu323Val