Canonical Allele Identifier: CA10566052

Gene: G6PD

Linked Data

• dbSNP Id: rs782667117
• ExAC: X:153760724 T / C
• gnomAD v2: X-153760724-T-C
• gnomAD v4: X-154532509-T-C
• MyVariant Identifiers: chrX:g.153760724T>C (hg19) ; chrX:g.154532509T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532509T>C , CM000685.2:g.154532509T>C	GRCh38
NC_000023.10:g.153760724T>C , CM000685.1:g.153760724T>C	GRCh37
NC_000023.9:g.153413918T>C	NCBI36
NG_009015.2:g.20064A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.1288-47A>G	ENSP00000377194.2:n.1288-47A>G
ENST00000439227.6:c.1291-47A>G	ENSP00000395599.2:n.1291-47A>G
ENST00000696420.1:c.1288-47A>G	ENSP00000512615.1:n.1288-47A>G
ENST00000696421.1:c.1288-47A>G	ENSP00000512616.1:n.1288-47A>G
ENST00000696422.1:c.1151-47A>G
ENST00000696423.1:c.1154-47A>G
ENST00000696424.1:c.1140-47A>G	ENSP00000512619.1:n.1140-47A>G
ENST00000696425.1:c.*201-47A>G	ENSP00000512620.1:n.*201-47A>G
ENST00000696426.1:c.*748-47A>G	ENSP00000512621.1:n.*748-47A>G
ENST00000696427.1:c.*248-47A>G	ENSP00000512622.1:n.*248-47A>G
ENST00000696428.1:c.*1130-47A>G	ENSP00000512623.1:n.*1130-47A>G
ENST00000696429.1:c.1288-47A>G	ENSP00000512624.1:n.1288-47A>G
ENST00000696430.1:c.1288-47A>G	ENSP00000512625.1:n.1288-47A>G
ENST00000393562.10:c.1288-47A>G MANE Select	ENSP00000377192.3:n.1288-47A>G
ENST00000369620.6:c.1426-47A>G	ENSP00000358633.2:n.1426-47A>G
ENST00000393562.6:c.1378-47A>G	ENSP00000377192.2:n.1378-47A>G
ENST00000393564.6:c.1288-47A>G	ENSP00000377194.2:n.1288-47A>G
ENST00000490651.1:n.509-47A>G
ENST00000621232.4:c.1288-47A>G	ENSP00000483686.1:n.1288-47A>G
NM_000402.4:c.1378-47A>G	NP_000393.4:n.1378-47A>G
NM_001042351.2:c.1288-47A>G	NP_001035810.1:n.1288-47A>G
XM_005274657.2:c.1381-47A>G	XP_005274714.1:n.1381-47A>G
XM_005274658.2:c.1291-47A>G	XP_005274715.1:n.1291-47A>G
NM_001360016.2:c.1288-47A>G MANE Select	NP_001346945.1:n.1288-47A>G
NM_001042351.3:c.1288-47A>G	NP_001035810.1:n.1288-47A>G