Canonical Allele Identifier: CA415234432
Gene: G6PD HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.1010T>C ENSP00000377194.2:p.Phe337Ser
ENST00000439227.6:c.1013T>C ENSP00000395599.2:p.Phe338Ser
ENST00000696420.1:c.1010T>C ENSP00000512615.1:p.Phe337Ser
ENST00000696421.1:c.1010T>C ENSP00000512616.1:p.Phe337Ser
ENST00000696422.1:c.873T>C
ENST00000696423.1:c.876T>C
ENST00000696424.1:c.862T>C ENSP00000512619.1:n.862T>C
ENST00000696425.1:c.865-181T>C ENSP00000512620.1:n.865-181T>C
ENST00000696426.1:c.*470T>C ENSP00000512621.1:n.*470T>C
ENST00000696427.1:c.1017T>C ENSP00000512622.1:p.Phe339=
ENST00000696428.1:c.*852T>C ENSP00000512623.1:n.*852T>C
ENST00000696429.1:c.1010T>C ENSP00000512624.1:p.Phe337Ser
ENST00000696430.1:c.1010T>C ENSP00000512625.1:p.Phe337Ser
ENST00000393562.10:c.1010T>C MANE Select ENSP00000377192.3:p.Phe337Ser
ENST00000369620.6:c.1148T>C ENSP00000358633.2:p.Phe383Ser
ENST00000393562.6:c.1100T>C ENSP00000377192.2:p.Phe367Ser
ENST00000393564.6:c.1010T>C ENSP00000377194.2:p.Phe337Ser
ENST00000439227.5:c.1013T>C ENSP00000395599.1:p.Phe338Ser
ENST00000490651.1:n.92T>C
ENST00000621232.4:c.1010T>C ENSP00000483686.1:p.Phe337Ser
NM_000402.4:c.1100T>C NP_000393.4:p.Phe367Ser
NM_001042351.2:c.1010T>C NP_001035810.1:p.Phe337Ser
XM_005274657.2:c.1103T>C XP_005274714.1:p.Phe368Ser
XM_005274658.2:c.1013T>C XP_005274715.1:p.Phe338Ser
XM_011531132.1:c.958-181T>C XP_011529434.1:n.958-181T>C
NM_001360016.2:c.1010T>C MANE Select NP_001346945.1:p.Phe337Ser
NM_001042351.3:c.1010T>C NP_001035810.1:p.Phe337Ser