Canonical Allele Identifier: CA415234559

Gene: G6PD

Linked Data

• gnomAD v4: X-154533031-C-G
• MyVariant Identifiers: chrX:g.153761246C>G (hg19) ; chrX:g.154533031C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154533031C>G , CM000685.2:g.154533031C>G	GRCh38
NC_000023.10:g.153761246C>G , CM000685.1:g.153761246C>G	GRCh37
NC_000023.9:g.153414440C>G	NCBI36
NG_009015.2:g.19542G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.962G>C	ENSP00000377194.2:p.Gly321Ala
ENST00000439227.6:c.965G>C	ENSP00000395599.2:p.Gly322Ala
ENST00000696420.1:c.962G>C	ENSP00000512615.1:p.Gly321Ala
ENST00000696421.1:c.962G>C	ENSP00000512616.1:p.Gly321Ala
ENST00000696422.1:c.825G>C
ENST00000696423.1:c.828G>C
ENST00000696424.1:c.814G>C	ENSP00000512619.1:n.814G>C
ENST00000696425.1:c.865-229G>C	ENSP00000512620.1:n.865-229G>C
ENST00000696426.1:c.*422G>C	ENSP00000512621.1:n.*422G>C
ENST00000696427.1:c.969G>C	ENSP00000512622.1:p.Arg323Ser
ENST00000696428.1:c.*804G>C	ENSP00000512623.1:n.*804G>C
ENST00000696429.1:c.962G>C	ENSP00000512624.1:p.Gly321Ala
ENST00000696430.1:c.962G>C	ENSP00000512625.1:p.Gly321Ala
ENST00000393562.10:c.962G>C MANE Select	ENSP00000377192.3:p.Gly321Ala
ENST00000369620.6:c.1100G>C	ENSP00000358633.2:p.Gly367Ala
ENST00000393562.6:c.1052G>C	ENSP00000377192.2:p.Gly351Ala
ENST00000393564.6:c.962G>C	ENSP00000377194.2:p.Gly321Ala
ENST00000439227.5:c.965G>C	ENSP00000395599.1:p.Gly322Ala
ENST00000490651.1:n.44G>C
ENST00000621232.4:c.962G>C	ENSP00000483686.1:p.Gly321Ala
NM_000402.4:c.1052G>C	NP_000393.4:p.Gly351Ala
NM_001042351.2:c.962G>C	NP_001035810.1:p.Gly321Ala
XM_005274657.2:c.1055G>C	XP_005274714.1:p.Gly352Ala
XM_005274658.2:c.965G>C	XP_005274715.1:p.Gly322Ala
XM_011531132.1:c.958-229G>C	XP_011529434.1:n.958-229G>C
NM_001360016.2:c.962G>C MANE Select	NP_001346945.1:p.Gly321Ala
NM_001042351.3:c.962G>C	NP_001035810.1:p.Gly321Ala