Canonical Allele Identifier: CA8228347
Community Standard Title: NM_000101.4(CYBA):c.226G>A (p.Val76Met)
Gene: CYBA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88646816C>T , CM000678.2:g.88646816C>T GRCh38
NC_000016.9:g.88713224C>T , CM000678.1:g.88713224C>T GRCh37
NC_000016.8:g.87240725C>T NCBI36
NG_007291.1:g.9234G>A , LRG_52:g.9234G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000101.4:c.226G>A MANE Select NP_000092.2:p.Val76Met
ENST00000261623.8:c.226G>A MANE Select ENSP00000261623.3:p.Val76Met
NM_000101.3:c.226G>A NP_000092.2:p.Val76Met
ENST00000261623.7:c.226G>A ENSP00000261623.3:p.Val76Met
ENST00000562209.1:n.506G>A
ENST00000563526.5:n.201G>A
ENST00000565588.5:c.10G>A
ENST00000565588.6:c.226G>A ENSP00000455537.2:p.Val76Met
ENST00000566229.1:c.215G>A ENSP00000457060.1:p.Arg72His
ENST00000566534.5:n.248G>A
ENST00000567174.5:c.226G>A ENSP00000454951.1:p.Val76Met
ENST00000568278.1:c.226G>A ENSP00000455506.1:p.Val76Met
ENST00000569359.5:c.226G>A ENSP00000456079.1:p.Val76Met
ENST00000696156.1:c.203+285G>A ENSP00000512446.1:n.203+285G>A
ENST00000696157.1:c.226G>A ENSP00000512447.1:p.Val76Met
ENST00000696158.1:c.226G>A ENSP00000512448.1:p.Val76Met
ENST00000696159.1:c.226G>A ENSP00000512449.1:p.Val76Met
ENST00000696160.1:c.226G>A ENSP00000512450.1:p.Val76Met
ENST00000696161.1:c.356G>A ENSP00000512451.1:p.Arg119His
ENST00000696162.1:c.226G>A ENSP00000512452.1:p.Val76Met
ENST00000696163.1:c.204-29G>A ENSP00000512453.1:n.204-29G>A
XM_011522905.1:c.226G>A XP_011521207.1:p.Val76Met
XM_011522905.3:c.226G>A XP_011521207.1:p.Val76Met