Canonical Allele Identifier: CA519303675

Gene: G6PD

Linked Data

• MyVariant Identifiers: chrX:g.153761296G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154533081G>C , CM000685.2:g.154533081G>C	GRCh38
NC_000023.10:g.153761296G>C , CM000685.1:g.153761296G>C	GRCh37
NC_000023.9:g.153414490G>C	NCBI36
NG_009015.2:g.19492C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.912C>G	ENSP00000377194.2:p.Val304=
ENST00000439227.6:c.915C>G	ENSP00000395599.2:p.Val305=
ENST00000696420.1:c.912C>G	ENSP00000512615.1:p.Val304=
ENST00000696421.1:c.912C>G	ENSP00000512616.1:p.Val304=
ENST00000696422.1:c.775C>G
ENST00000696423.1:c.778C>G
ENST00000696424.1:c.764C>G	ENSP00000512619.1:n.764C>G
ENST00000696425.1:c.865-279C>G	ENSP00000512620.1:n.865-279C>G
ENST00000696426.1:c.*372C>G	ENSP00000512621.1:n.*372C>G
ENST00000696427.1:c.919C>G	ENSP00000512622.1:p.Pro307Ala
ENST00000696428.1:c.*754C>G	ENSP00000512623.1:n.*754C>G
ENST00000696429.1:c.912C>G	ENSP00000512624.1:p.Val304=
ENST00000696430.1:c.912C>G	ENSP00000512625.1:p.Val304=
ENST00000393562.10:c.912C>G MANE Select	ENSP00000377192.3:p.Val304=
ENST00000369620.6:c.1050C>G	ENSP00000358633.2:p.Val350=
ENST00000393562.6:c.1002C>G	ENSP00000377192.2:p.Val334=
ENST00000393564.6:c.912C>G	ENSP00000377194.2:p.Val304=
ENST00000439227.5:c.915C>G	ENSP00000395599.1:p.Val305=
ENST00000440967.5:c.915C>G	ENSP00000400648.1:p.Val305=
ENST00000621232.4:c.912C>G	ENSP00000483686.1:p.Val304=
NM_000402.4:c.1002C>G	NP_000393.4:p.Val334=
NM_001042351.2:c.912C>G	NP_001035810.1:p.Val304=
XM_005274657.2:c.1005C>G	XP_005274714.1:p.Val335=
XM_005274658.2:c.915C>G	XP_005274715.1:p.Val305=
XM_011531132.1:c.958-279C>G	XP_011529434.1:n.958-279C>G
NM_001360016.2:c.912C>G MANE Select	NP_001346945.1:p.Val304=
NM_001042351.3:c.912C>G	NP_001035810.1:p.Val304=