Canonical Allele Identifier: CA415235376
Gene: G6PD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154533655T>C , CM000685.2:g.154533655T>C GRCh38
NC_000023.10:g.153761870T>C , CM000685.1:g.153761870T>C GRCh37
NC_000023.9:g.153415064T>C NCBI36
NG_009015.2:g.18918A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.785A>G ENSP00000377194.2:p.Asn262Ser
ENST00000439227.6:c.788A>G ENSP00000395599.2:p.Asn263Ser
ENST00000696420.1:c.785A>G ENSP00000512615.1:p.Asn262Ser
ENST00000696421.1:c.785A>G ENSP00000512616.1:p.Asn262Ser
ENST00000696422.1:c.648A>G
ENST00000696423.1:c.651A>G
ENST00000696424.1:c.651-14A>G ENSP00000512619.1:n.651-14A>G
ENST00000696425.1:c.785A>G ENSP00000512620.1:p.Asn262Ser
ENST00000696426.1:c.785A>G ENSP00000512621.1:p.Asn262Ser
ENST00000696427.1:c.785A>G ENSP00000512622.1:p.Asn262Ser
ENST00000696428.1:c.*627A>G ENSP00000512623.1:n.*627A>G
ENST00000696429.1:c.785A>G ENSP00000512624.1:p.Asn262Ser
ENST00000696430.1:c.785A>G ENSP00000512625.1:p.Asn262Ser
ENST00000393562.10:c.785A>G MANE Select ENSP00000377192.3:p.Asn262Ser
ENST00000369620.6:c.923A>G ENSP00000358633.2:p.Asn308Ser
ENST00000393562.6:c.875A>G ENSP00000377192.2:p.Asn292Ser
ENST00000393564.6:c.785A>G ENSP00000377194.2:p.Asn262Ser
ENST00000439227.5:c.788A>G ENSP00000395599.1:p.Asn263Ser
ENST00000440967.5:c.788A>G ENSP00000400648.1:p.Asn263Ser
ENST00000489497.1:n.174A>G
ENST00000621232.4:c.785A>G ENSP00000483686.1:p.Asn262Ser
NM_000402.4:c.875A>G NP_000393.4:p.Asn292Ser
NM_001042351.2:c.785A>G NP_001035810.1:p.Asn262Ser
XM_005274657.2:c.878A>G XP_005274714.1:p.Asn293Ser
XM_005274658.2:c.788A>G XP_005274715.1:p.Asn263Ser
XM_011531132.1:c.878A>G XP_011529434.1:p.Asn293Ser
NM_001360016.2:c.785A>G MANE Select NP_001346945.1:p.Asn262Ser
NM_001042351.3:c.785A>G NP_001035810.1:p.Asn262Ser