Canonical Allele Identifier: CA415234444
Gene: G6PD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532989G>C , CM000685.2:g.154532989G>C GRCh38
NC_000023.10:g.153761204G>C , CM000685.1:g.153761204G>C GRCh37
NC_000023.9:g.153414398G>C NCBI36
NG_009015.2:g.19584C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.1004C>G ENSP00000377194.2:p.Ala335Gly
ENST00000439227.6:c.1007C>G ENSP00000395599.2:p.Ala336Gly
ENST00000696420.1:c.1004C>G ENSP00000512615.1:p.Ala335Gly
ENST00000696421.1:c.1004C>G ENSP00000512616.1:p.Ala335Gly
ENST00000696422.1:c.867C>G
ENST00000696423.1:c.870C>G
ENST00000696424.1:c.856C>G ENSP00000512619.1:n.856C>G
ENST00000696425.1:c.865-187C>G ENSP00000512620.1:n.865-187C>G
ENST00000696426.1:c.*464C>G ENSP00000512621.1:n.*464C>G
ENST00000696427.1:c.1011C>G ENSP00000512622.1:p.Arg337=
ENST00000696428.1:c.*846C>G ENSP00000512623.1:n.*846C>G
ENST00000696429.1:c.1004C>G ENSP00000512624.1:p.Ala335Gly
ENST00000696430.1:c.1004C>G ENSP00000512625.1:p.Ala335Gly
ENST00000393562.10:c.1004C>G MANE Select ENSP00000377192.3:p.Ala335Gly
ENST00000369620.6:c.1142C>G ENSP00000358633.2:p.Ala381Gly
ENST00000393562.6:c.1094C>G ENSP00000377192.2:p.Ala365Gly
ENST00000393564.6:c.1004C>G ENSP00000377194.2:p.Ala335Gly
ENST00000439227.5:c.1007C>G ENSP00000395599.1:p.Ala336Gly
ENST00000490651.1:n.86C>G
ENST00000621232.4:c.1004C>G ENSP00000483686.1:p.Ala335Gly
NM_000402.4:c.1094C>G NP_000393.4:p.Ala365Gly
NM_001042351.2:c.1004C>G NP_001035810.1:p.Ala335Gly
XM_005274657.2:c.1097C>G XP_005274714.1:p.Ala366Gly
XM_005274658.2:c.1007C>G XP_005274715.1:p.Ala336Gly
XM_011531132.1:c.958-187C>G XP_011529434.1:n.958-187C>G
NM_001360016.2:c.1004C>G MANE Select NP_001346945.1:p.Ala335Gly
NM_001042351.3:c.1004C>G NP_001035810.1:p.Ala335Gly