Canonical Allele Identifier: CA415234431
Gene: G6PD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532983A>C , CM000685.2:g.154532983A>C GRCh38
NC_000023.10:g.153761198A>C , CM000685.1:g.153761198A>C GRCh37
NC_000023.9:g.153414392A>C NCBI36
NG_009015.2:g.19590T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.1010T>G ENSP00000377194.2:p.Phe337Cys
ENST00000439227.6:c.1013T>G ENSP00000395599.2:p.Phe338Cys
ENST00000696420.1:c.1010T>G ENSP00000512615.1:p.Phe337Cys
ENST00000696421.1:c.1010T>G ENSP00000512616.1:p.Phe337Cys
ENST00000696422.1:c.873T>G
ENST00000696423.1:c.876T>G
ENST00000696424.1:c.862T>G ENSP00000512619.1:n.862T>G
ENST00000696425.1:c.865-181T>G ENSP00000512620.1:n.865-181T>G
ENST00000696426.1:c.*470T>G ENSP00000512621.1:n.*470T>G
ENST00000696427.1:c.1017T>G ENSP00000512622.1:p.Phe339Leu
ENST00000696428.1:c.*852T>G ENSP00000512623.1:n.*852T>G
ENST00000696429.1:c.1010T>G ENSP00000512624.1:p.Phe337Cys
ENST00000696430.1:c.1010T>G ENSP00000512625.1:p.Phe337Cys
ENST00000393562.10:c.1010T>G MANE Select ENSP00000377192.3:p.Phe337Cys
ENST00000369620.6:c.1148T>G ENSP00000358633.2:p.Phe383Cys
ENST00000393562.6:c.1100T>G ENSP00000377192.2:p.Phe367Cys
ENST00000393564.6:c.1010T>G ENSP00000377194.2:p.Phe337Cys
ENST00000439227.5:c.1013T>G ENSP00000395599.1:p.Phe338Cys
ENST00000490651.1:n.92T>G
ENST00000621232.4:c.1010T>G ENSP00000483686.1:p.Phe337Cys
NM_000402.4:c.1100T>G NP_000393.4:p.Phe367Cys
NM_001042351.2:c.1010T>G NP_001035810.1:p.Phe337Cys
XM_005274657.2:c.1103T>G XP_005274714.1:p.Phe368Cys
XM_005274658.2:c.1013T>G XP_005274715.1:p.Phe338Cys
XM_011531132.1:c.958-181T>G XP_011529434.1:n.958-181T>G
NM_001360016.2:c.1010T>G MANE Select NP_001346945.1:p.Phe337Cys
NM_001042351.3:c.1010T>G NP_001035810.1:p.Phe337Cys