Canonical Allele Identifier: CA415232474

Gene: G6PD

Linked Data

• dbSNP Id: rs1557229487
• gnomAD v2: X-153760444-A-C
• gnomAD v4: X-154532229-A-C
• MyVariant Identifiers: chrX:g.153760444A>C (hg19) ; chrX:g.154532229A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532229A>C , CM000685.2:g.154532229A>C	GRCh38
NC_000023.10:g.153760444A>C , CM000685.1:g.153760444A>C	GRCh37
NC_000023.9:g.153413638A>C	NCBI36
NG_009015.2:g.20344T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1416T>G	ENSP00000377194.2:p.Ile472Met
ENST00000439227.6:c.1419T>G	ENSP00000395599.2:p.Ile473Met
ENST00000696420.1:c.1416T>G	ENSP00000512615.1:p.Ile472Met
ENST00000696421.1:c.1416T>G	ENSP00000512616.1:p.Ile472Met
ENST00000696422.1:c.1279T>G
ENST00000696423.1:c.1282T>G
ENST00000696424.1:c.1268T>G	ENSP00000512619.1:n.1268T>G
ENST00000696425.1:c.*329T>G	ENSP00000512620.1:n.*329T>G
ENST00000696426.1:c.*876T>G	ENSP00000512621.1:n.*876T>G
ENST00000696427.1:c.*376T>G	ENSP00000512622.1:n.*376T>G
ENST00000696428.1:c.*1258T>G	ENSP00000512623.1:n.*1258T>G
ENST00000696429.1:c.1416T>G	ENSP00000512624.1:p.Ile472Met
ENST00000696430.1:c.1416T>G	ENSP00000512625.1:p.Ile472Met
ENST00000393562.10:c.1416T>G MANE Select	ENSP00000377192.3:p.Ile472Met
ENST00000369620.6:c.1554T>G	ENSP00000358633.2:p.Ile518Met
ENST00000393562.6:c.1506T>G	ENSP00000377192.2:p.Ile502Met
ENST00000393564.6:c.1416T>G	ENSP00000377194.2:p.Ile472Met
ENST00000490651.1:n.637T>G
ENST00000621232.4:c.1416T>G	ENSP00000483686.1:p.Ile472Met
NM_000402.4:c.1506T>G	NP_000393.4:p.Ile502Met
NM_001042351.2:c.1416T>G	NP_001035810.1:p.Ile472Met
XM_005274657.2:c.1509T>G	XP_005274714.1:p.Ile503Met
XM_005274658.2:c.1419T>G	XP_005274715.1:p.Ile473Met
NM_001360016.2:c.1416T>G MANE Select	NP_001346945.1:p.Ile472Met
NM_001042351.3:c.1416T>G	NP_001035810.1:p.Ile472Met