Canonical Allele Identifier: CA415234779
Gene: G6PD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154533080G>T , CM000685.2:g.154533080G>T GRCh38
NC_000023.10:g.153761295G>T , CM000685.1:g.153761295G>T GRCh37
NC_000023.9:g.153414489G>T NCBI36
NG_009015.2:g.19493C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.913C>A ENSP00000377194.2:p.Leu305Met
ENST00000439227.6:c.916C>A ENSP00000395599.2:p.Leu306Met
ENST00000696420.1:c.913C>A ENSP00000512615.1:p.Leu305Met
ENST00000696421.1:c.913C>A ENSP00000512616.1:p.Leu305Met
ENST00000696422.1:c.776C>A
ENST00000696423.1:c.779C>A
ENST00000696424.1:c.765C>A ENSP00000512619.1:n.765C>A
ENST00000696425.1:c.865-278C>A ENSP00000512620.1:n.865-278C>A
ENST00000696426.1:c.*373C>A ENSP00000512621.1:n.*373C>A
ENST00000696427.1:c.920C>A ENSP00000512622.1:p.Pro307His
ENST00000696428.1:c.*755C>A ENSP00000512623.1:n.*755C>A
ENST00000696429.1:c.913C>A ENSP00000512624.1:p.Leu305Met
ENST00000696430.1:c.913C>A ENSP00000512625.1:p.Leu305Met
ENST00000393562.10:c.913C>A MANE Select ENSP00000377192.3:p.Leu305Met
ENST00000369620.6:c.1051C>A ENSP00000358633.2:p.Leu351Met
ENST00000393562.6:c.1003C>A ENSP00000377192.2:p.Leu335Met
ENST00000393564.6:c.913C>A ENSP00000377194.2:p.Leu305Met
ENST00000439227.5:c.916C>A ENSP00000395599.1:p.Leu306Met
ENST00000440967.5:c.916C>A ENSP00000400648.1:p.Leu306Met
ENST00000621232.4:c.913C>A ENSP00000483686.1:p.Leu305Met
NM_000402.4:c.1003C>A NP_000393.4:p.Leu335Met
NM_001042351.2:c.913C>A NP_001035810.1:p.Leu305Met
XM_005274657.2:c.1006C>A XP_005274714.1:p.Leu336Met
XM_005274658.2:c.916C>A XP_005274715.1:p.Leu306Met
XM_011531132.1:c.958-278C>A XP_011529434.1:n.958-278C>A
NM_001360016.2:c.913C>A MANE Select NP_001346945.1:p.Leu305Met
NM_001042351.3:c.913C>A NP_001035810.1:p.Leu305Met