Canonical Allele Identifier: CA397064548
Community Standard Title: NM_000101.4(CYBA):c.222C>A (p.Thr74=)
Gene: CYBA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88646820G>T , CM000678.2:g.88646820G>T GRCh38
NC_000016.9:g.88713228G>T , CM000678.1:g.88713228G>T GRCh37
NC_000016.8:g.87240729G>T NCBI36
NG_007291.1:g.9230C>A , LRG_52:g.9230C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000101.4:c.222C>A MANE Select NP_000092.2:p.Thr74=
ENST00000261623.8:c.222C>A MANE Select ENSP00000261623.3:p.Thr74=
NM_000101.3:c.222C>A NP_000092.2:p.Thr74=
ENST00000261623.7:c.222C>A ENSP00000261623.3:p.Thr74=
ENST00000562209.1:n.502C>A
ENST00000563526.5:n.197C>A
ENST00000565588.5:c.6C>A
ENST00000565588.6:c.222C>A ENSP00000455537.2:p.Thr74=
ENST00000566229.1:c.211C>A ENSP00000457060.1:p.Arg71Ser
ENST00000566534.5:n.244C>A
ENST00000567174.5:c.222C>A ENSP00000454951.1:p.Thr74=
ENST00000568278.1:c.222C>A ENSP00000455506.1:p.Thr74=
ENST00000569359.5:c.222C>A ENSP00000456079.1:p.Thr74=
ENST00000696156.1:c.203+281C>A ENSP00000512446.1:n.203+281C>A
ENST00000696157.1:c.222C>A ENSP00000512447.1:p.Thr74=
ENST00000696158.1:c.222C>A ENSP00000512448.1:p.Thr74=
ENST00000696159.1:c.222C>A ENSP00000512449.1:p.Thr74=
ENST00000696160.1:c.222C>A ENSP00000512450.1:p.Thr74=
ENST00000696161.1:c.352C>A ENSP00000512451.1:p.Arg118Ser
ENST00000696162.1:c.222C>A ENSP00000512452.1:p.Thr74=
ENST00000696163.1:c.204-33C>A ENSP00000512453.1:n.204-33C>A
XM_011522905.1:c.222C>A XP_011521207.1:p.Thr74=
XM_011522905.3:c.222C>A XP_011521207.1:p.Thr74=