Canonical Allele Identifier: CA415232255

Gene: G6PD

Linked Data

• MyVariant Identifiers: chrX:g.153760407C>G (hg19) ; chrX:g.154532192C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532192C>G , CM000685.2:g.154532192C>G	GRCh38
NC_000023.10:g.153760407C>G , CM000685.1:g.153760407C>G	GRCh37
NC_000023.9:g.153413601C>G	NCBI36
NG_009015.2:g.20381G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.1453G>C	ENSP00000377194.2:p.Gly485Arg
ENST00000439227.6:c.1456G>C	ENSP00000395599.2:p.Gly486Arg
ENST00000696420.1:c.1453G>C	ENSP00000512615.1:p.Gly485Arg
ENST00000696421.1:c.1453G>C	ENSP00000512616.1:p.Gly485Arg
ENST00000696422.1:c.1316G>C
ENST00000696423.1:c.1319G>C
ENST00000696424.1:c.1305G>C	ENSP00000512619.1:n.1305G>C
ENST00000696425.1:c.*366G>C	ENSP00000512620.1:n.*366G>C
ENST00000696426.1:c.*913G>C	ENSP00000512621.1:n.*913G>C
ENST00000696427.1:c.*413G>C	ENSP00000512622.1:n.*413G>C
ENST00000696428.1:c.*1295G>C	ENSP00000512623.1:n.*1295G>C
ENST00000696429.1:c.1453G>C	ENSP00000512624.1:p.Gly485Arg
ENST00000696430.1:c.1453G>C	ENSP00000512625.1:p.Gly485Arg
ENST00000393562.10:c.1453G>C MANE Select	ENSP00000377192.3:p.Gly485Arg
ENST00000369620.6:c.1591G>C	ENSP00000358633.2:p.Gly531Arg
ENST00000393562.6:c.1543G>C	ENSP00000377192.2:p.Gly515Arg
ENST00000393564.6:c.1453G>C	ENSP00000377194.2:p.Gly485Arg
ENST00000490651.1:n.674G>C
ENST00000621232.4:c.1453G>C	ENSP00000483686.1:p.Gly485Arg
NM_000402.4:c.1543G>C	NP_000393.4:p.Gly515Arg
NM_001042351.2:c.1453G>C	NP_001035810.1:p.Gly485Arg
XM_005274657.2:c.1546G>C	XP_005274714.1:p.Gly516Arg
XM_005274658.2:c.1456G>C	XP_005274715.1:p.Gly486Arg
NM_001360016.2:c.1453G>C MANE Select	NP_001346945.1:p.Gly485Arg
NM_001042351.3:c.1453G>C	NP_001035810.1:p.Gly485Arg