Canonical Allele Identifier: CA10566099

Gene: G6PD

Linked Data

• dbSNP Id: rs782741566
• ExAC: X:153761208 T / G
• gnomAD v2: X-153761208-T-G
• gnomAD v4: X-154532993-T-G
• COSMIC: COSM5619910 ; COSM5619911 ; COSM5619912
• MyVariant Identifiers: chrX:g.153761208T>G (hg19) ; chrX:g.154532993T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532993T>G , CM000685.2:g.154532993T>G	GRCh38
NC_000023.10:g.153761208T>G , CM000685.1:g.153761208T>G	GRCh37
NC_000023.9:g.153414402T>G	NCBI36
NG_009015.2:g.19580A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1000A>C	ENSP00000377194.2:p.Thr334Pro
ENST00000439227.6:c.1003A>C	ENSP00000395599.2:p.Thr335Pro
ENST00000696420.1:c.1000A>C	ENSP00000512615.1:p.Thr334Pro
ENST00000696421.1:c.1000A>C	ENSP00000512616.1:p.Thr334Pro
ENST00000696422.1:c.863A>C
ENST00000696423.1:c.866A>C
ENST00000696424.1:c.852A>C	ENSP00000512619.1:n.852A>C
ENST00000696425.1:c.865-191A>C	ENSP00000512620.1:n.865-191A>C
ENST00000696426.1:c.*460A>C	ENSP00000512621.1:n.*460A>C
ENST00000696427.1:c.1007A>C	ENSP00000512622.1:p.His336Pro
ENST00000696428.1:c.*842A>C	ENSP00000512623.1:n.*842A>C
ENST00000696429.1:c.1000A>C	ENSP00000512624.1:p.Thr334Pro
ENST00000696430.1:c.1000A>C	ENSP00000512625.1:p.Thr334Pro
ENST00000393562.10:c.1000A>C MANE Select	ENSP00000377192.3:p.Thr334Pro
ENST00000369620.6:c.1138A>C	ENSP00000358633.2:p.Thr380Pro
ENST00000393562.6:c.1090A>C	ENSP00000377192.2:p.Thr364Pro
ENST00000393564.6:c.1000A>C	ENSP00000377194.2:p.Thr334Pro
ENST00000439227.5:c.1003A>C	ENSP00000395599.1:p.Thr335Pro
ENST00000490651.1:n.82A>C
ENST00000621232.4:c.1000A>C	ENSP00000483686.1:p.Thr334Pro
NM_000402.4:c.1090A>C	NP_000393.4:p.Thr364Pro
NM_001042351.2:c.1000A>C	NP_001035810.1:p.Thr334Pro
XM_005274657.2:c.1093A>C	XP_005274714.1:p.Thr365Pro
XM_005274658.2:c.1003A>C	XP_005274715.1:p.Thr335Pro
XM_011531132.1:c.958-191A>C	XP_011529434.1:n.958-191A>C
NM_001360016.2:c.1000A>C MANE Select	NP_001346945.1:p.Thr334Pro
NM_001042351.3:c.1000A>C	NP_001035810.1:p.Thr334Pro