Canonical Allele Identifier: CA8228407
Gene: CYBA HGNC NCBI

Linked Data

ClinVar Variation Id: 1063259
dbSNP Id: rs767148046

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88647138G>C , CM000678.2:g.88647138G>C GRCh38
NC_000016.9:g.88713546G>C , CM000678.1:g.88713546G>C GRCh37
NC_000016.8:g.87241047G>C NCBI36
NG_007291.1:g.8912C>G , LRG_52:g.8912C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000565588.6:c.166C>G ENSP00000455537.2:p.Arg56Gly
ENST00000696156.1:c.166C>G ENSP00000512446.1:p.Arg56Gly
ENST00000696157.1:c.166C>G ENSP00000512447.1:p.Arg56Gly
ENST00000696158.1:c.166C>G ENSP00000512448.1:p.Arg56Gly
ENST00000696159.1:c.166C>G ENSP00000512449.1:p.Arg56Gly
ENST00000696160.1:c.166C>G ENSP00000512450.1:p.Arg56Gly
ENST00000696161.1:c.166C>G ENSP00000512451.1:p.Arg56Gly
ENST00000696162.1:c.166C>G ENSP00000512452.1:p.Arg56Gly
ENST00000696163.1:c.166C>G ENSP00000512453.1:p.Arg56Gly
ENST00000261623.8:c.166C>G MANE Select ENSP00000261623.3:p.Arg56Gly
ENST00000261623.7:c.166C>G ENSP00000261623.3:p.Arg56Gly
ENST00000562209.1:n.184C>G
ENST00000563526.5:n.141C>G
ENST00000566229.1:c.155C>G ENSP00000457060.1:p.Pro52Arg
ENST00000566534.5:n.188C>G
ENST00000567174.5:c.166C>G ENSP00000454951.1:p.Arg56Gly
ENST00000568278.1:c.166C>G ENSP00000455506.1:p.Arg56Gly
ENST00000569359.5:c.166C>G ENSP00000456079.1:p.Arg56Gly
NM_000101.3:c.166C>G NP_000092.2:p.Arg56Gly
XM_011522905.1:c.166C>G XP_011521207.1:p.Arg56Gly
XM_011522905.3:c.166C>G XP_011521207.1:p.Arg56Gly
NM_000101.4:c.166C>G MANE Select NP_000092.2:p.Arg56Gly