Canonical Allele Identifier: CA10604027
Gene: CYBA HGNC NCBI

Linked Data

ClinVar Variation Id: 281997
dbSNP Id: rs886042280

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88647165C>T , CM000678.2:g.88647165C>T GRCh38
NC_000016.9:g.88713573C>T , CM000678.1:g.88713573C>T GRCh37
NC_000016.8:g.87241074C>T NCBI36
NG_007291.1:g.8885G>A , LRG_52:g.8885G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000565588.6:c.139G>A ENSP00000455537.2:p.Val47Met
ENST00000696156.1:c.139G>A ENSP00000512446.1:p.Val47Met
ENST00000696157.1:c.139G>A ENSP00000512447.1:p.Val47Met
ENST00000696158.1:c.139G>A ENSP00000512448.1:p.Val47Met
ENST00000696159.1:c.139G>A ENSP00000512449.1:p.Val47Met
ENST00000696160.1:c.139G>A ENSP00000512450.1:p.Val47Met
ENST00000696161.1:c.139G>A ENSP00000512451.1:p.Val47Met
ENST00000696162.1:c.139G>A ENSP00000512452.1:p.Val47Met
ENST00000696163.1:c.139G>A ENSP00000512453.1:p.Val47Met
ENST00000261623.8:c.139G>A MANE Select ENSP00000261623.3:p.Val47Met
ENST00000261623.7:c.139G>A ENSP00000261623.3:p.Val47Met
ENST00000562209.1:n.157G>A
ENST00000563526.5:n.114G>A
ENST00000566229.1:c.128G>A ENSP00000457060.1:p.Arg43His
ENST00000566534.5:n.161G>A
ENST00000567174.5:c.139G>A ENSP00000454951.1:p.Val47Met
ENST00000568278.1:c.139G>A ENSP00000455506.1:p.Val47Met
ENST00000569359.5:c.139G>A ENSP00000456079.1:p.Val47Met
NM_000101.3:c.139G>A NP_000092.2:p.Val47Met
XM_011522905.1:c.139G>A XP_011521207.1:p.Val47Met
XM_011522905.3:c.139G>A XP_011521207.1:p.Val47Met
NM_000101.4:c.139G>A MANE Select NP_000092.2:p.Val47Met