Canonical Allele Identifier: CA115459
Gene: CYBA HGNC NCBI

Linked Data

ClinVar Variation Id: 2264
dbSNP Id: rs104894511
COSMIC: COSM131493

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88651007G>A , CM000678.2:g.88651007G>A GRCh38
NC_000016.9:g.88717415G>A , CM000678.1:g.88717415G>A GRCh37
NC_000016.8:g.87244916G>A NCBI36
NG_007291.1:g.5043C>T , LRG_52:g.5043C>T
NG_052674.1:g.17147C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000565588.6:c.7C>T ENSP00000455537.2:p.Gln3Ter
ENST00000696156.1:c.7C>T ENSP00000512446.1:p.Gln3Ter
ENST00000696157.1:c.7C>T ENSP00000512447.1:p.Gln3Ter
ENST00000696158.1:c.7C>T ENSP00000512448.1:p.Gln3Ter
ENST00000696159.1:c.7C>T ENSP00000512449.1:p.Gln3Ter
ENST00000696160.1:c.7C>T ENSP00000512450.1:p.Gln3Ter
ENST00000696161.1:c.7C>T ENSP00000512451.1:p.Gln3Ter
ENST00000696162.1:c.7C>T ENSP00000512452.1:p.Gln3Ter
ENST00000696163.1:c.7C>T ENSP00000512453.1:p.Gln3Ter
ENST00000261623.8:c.7C>T MANE Select ENSP00000261623.3:p.Gln3Ter
ENST00000261623.7:c.7C>T ENSP00000261623.3:p.Gln3Ter
ENST00000561972.1:n.48C>T
ENST00000562209.1:n.25C>T
ENST00000566534.5:n.29C>T
ENST00000567174.5:c.7C>T ENSP00000454951.1:p.Gln3Ter
ENST00000568278.1:c.7C>T ENSP00000455506.1:p.Gln3Ter
ENST00000569359.5:c.7C>T ENSP00000456079.1:p.Gln3Ter
NM_000101.3:c.7C>T NP_000092.2:p.Gln3Ter
XM_011522905.1:c.7C>T XP_011521207.1:p.Gln3Ter
XM_011522905.3:c.7C>T XP_011521207.1:p.Gln3Ter
NM_000101.4:c.7C>T MANE Select NP_000092.2:p.Gln3Ter