Canonical Allele Identifier: CA8228402
Gene: CYBA HGNC NCBI

Linked Data

ClinVar Variation Id: 252465
dbSNP Id: rs11547387

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88647125T>G , CM000678.2:g.88647125T>G GRCh38
NC_000016.9:g.88713533T>G , CM000678.1:g.88713533T>G GRCh37
NC_000016.8:g.87241034T>G NCBI36
NG_007291.1:g.8925A>C , LRG_52:g.8925A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000565588.6:c.179A>C ENSP00000455537.2:p.Lys60Thr
ENST00000696156.1:c.179A>C ENSP00000512446.1:p.Lys60Thr
ENST00000696157.1:c.179A>C ENSP00000512447.1:p.Lys60Thr
ENST00000696158.1:c.179A>C ENSP00000512448.1:p.Lys60Thr
ENST00000696159.1:c.179A>C ENSP00000512449.1:p.Lys60Thr
ENST00000696160.1:c.179A>C ENSP00000512450.1:p.Lys60Thr
ENST00000696161.1:c.179A>C ENSP00000512451.1:p.Lys60Thr
ENST00000696162.1:c.179A>C ENSP00000512452.1:p.Lys60Thr
ENST00000696163.1:c.179A>C ENSP00000512453.1:p.Lys60Thr
ENST00000261623.8:c.179A>C MANE Select ENSP00000261623.3:p.Lys60Thr
ENST00000261623.7:c.179A>C ENSP00000261623.3:p.Lys60Thr
ENST00000562209.1:n.197A>C
ENST00000563526.5:n.154A>C
ENST00000566229.1:c.168A>C ENSP00000457060.1:p.Glu56Asp
ENST00000566534.5:n.201A>C
ENST00000567174.5:c.179A>C ENSP00000454951.1:p.Lys60Thr
ENST00000568278.1:c.179A>C ENSP00000455506.1:p.Lys60Thr
ENST00000569359.5:c.179A>C ENSP00000456079.1:p.Lys60Thr
NM_000101.3:c.179A>C NP_000092.2:p.Lys60Thr
XM_011522905.1:c.179A>C XP_011521207.1:p.Lys60Thr
XM_011522905.3:c.179A>C XP_011521207.1:p.Lys60Thr
NM_000101.4:c.179A>C MANE Select NP_000092.2:p.Lys60Thr