Canonical Allele Identifier: CA415234906
Gene: G6PD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154533112C>A , CM000685.2:g.154533112C>A GRCh38
NC_000023.10:g.153761327C>A , CM000685.1:g.153761327C>A GRCh37
NC_000023.9:g.153414521C>A NCBI36
NG_009015.2:g.19461G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.881G>T ENSP00000377194.2:p.Cys294Phe
ENST00000439227.6:c.884G>T ENSP00000395599.2:p.Cys295Phe
ENST00000696420.1:c.881G>T ENSP00000512615.1:p.Cys294Phe
ENST00000696421.1:c.881G>T ENSP00000512616.1:p.Cys294Phe
ENST00000696422.1:c.744G>T
ENST00000696423.1:c.747G>T
ENST00000696424.1:c.733G>T ENSP00000512619.1:n.733G>T
ENST00000696425.1:c.865-310G>T ENSP00000512620.1:n.865-310G>T
ENST00000696426.1:c.*341G>T ENSP00000512621.1:n.*341G>T
ENST00000696427.1:c.888G>T ENSP00000512622.1:p.Met296Ile
ENST00000696428.1:c.*723G>T ENSP00000512623.1:n.*723G>T
ENST00000696429.1:c.881G>T ENSP00000512624.1:p.Cys294Phe
ENST00000696430.1:c.881G>T ENSP00000512625.1:p.Cys294Phe
ENST00000393562.10:c.881G>T MANE Select ENSP00000377192.3:p.Cys294Phe
ENST00000369620.6:c.1019G>T ENSP00000358633.2:p.Cys340Phe
ENST00000393562.6:c.971G>T ENSP00000377192.2:p.Cys324Phe
ENST00000393564.6:c.881G>T ENSP00000377194.2:p.Cys294Phe
ENST00000439227.5:c.884G>T ENSP00000395599.1:p.Cys295Phe
ENST00000440967.5:c.884G>T ENSP00000400648.1:p.Cys295Phe
ENST00000621232.4:c.881G>T ENSP00000483686.1:p.Cys294Phe
NM_000402.4:c.971G>T NP_000393.4:p.Cys324Phe
NM_001042351.2:c.881G>T NP_001035810.1:p.Cys294Phe
XM_005274657.2:c.974G>T XP_005274714.1:p.Cys325Phe
XM_005274658.2:c.884G>T XP_005274715.1:p.Cys295Phe
XM_011531132.1:c.958-310G>T XP_011529434.1:n.958-310G>T
NM_001360016.2:c.881G>T MANE Select NP_001346945.1:p.Cys294Phe
NM_001042351.3:c.881G>T NP_001035810.1:p.Cys294Phe