Canonical Allele Identifier: CA415234733
Gene: G6PD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154533070T>A , CM000685.2:g.154533070T>A GRCh38
NC_000023.10:g.153761285T>A , CM000685.1:g.153761285T>A GRCh37
NC_000023.9:g.153414479T>A NCBI36
NG_009015.2:g.19503A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.923A>T ENSP00000377194.2:p.Tyr308Phe
ENST00000439227.6:c.926A>T ENSP00000395599.2:p.Tyr309Phe
ENST00000696420.1:c.923A>T ENSP00000512615.1:p.Tyr308Phe
ENST00000696421.1:c.923A>T ENSP00000512616.1:p.Tyr308Phe
ENST00000696422.1:c.786A>T
ENST00000696423.1:c.789A>T
ENST00000696424.1:c.775A>T ENSP00000512619.1:n.775A>T
ENST00000696425.1:c.865-268A>T ENSP00000512620.1:n.865-268A>T
ENST00000696426.1:c.*383A>T ENSP00000512621.1:n.*383A>T
ENST00000696427.1:c.930A>T ENSP00000512622.1:p.Val310=
ENST00000696428.1:c.*765A>T ENSP00000512623.1:n.*765A>T
ENST00000696429.1:c.923A>T ENSP00000512624.1:p.Tyr308Phe
ENST00000696430.1:c.923A>T ENSP00000512625.1:p.Tyr308Phe
ENST00000393562.10:c.923A>T MANE Select ENSP00000377192.3:p.Tyr308Phe
ENST00000369620.6:c.1061A>T ENSP00000358633.2:p.Tyr354Phe
ENST00000393562.6:c.1013A>T ENSP00000377192.2:p.Tyr338Phe
ENST00000393564.6:c.923A>T ENSP00000377194.2:p.Tyr308Phe
ENST00000439227.5:c.926A>T ENSP00000395599.1:p.Tyr309Phe
ENST00000440967.5:c.926A>T ENSP00000400648.1:p.Tyr309Phe
ENST00000490651.1:n.5A>T
ENST00000621232.4:c.923A>T ENSP00000483686.1:p.Tyr308Phe
NM_000402.4:c.1013A>T NP_000393.4:p.Tyr338Phe
NM_001042351.2:c.923A>T NP_001035810.1:p.Tyr308Phe
XM_005274657.2:c.1016A>T XP_005274714.1:p.Tyr339Phe
XM_005274658.2:c.926A>T XP_005274715.1:p.Tyr309Phe
XM_011531132.1:c.958-268A>T XP_011529434.1:n.958-268A>T
NM_001360016.2:c.923A>T MANE Select NP_001346945.1:p.Tyr308Phe
NM_001042351.3:c.923A>T NP_001035810.1:p.Tyr308Phe