Canonical Allele Identifier: CA8228353
Community Standard Title: NM_000101.4(CYBA):c.204-2A>G
Gene: CYBA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88646840T>C , CM000678.2:g.88646840T>C GRCh38
NC_000016.9:g.88713248T>C , CM000678.1:g.88713248T>C GRCh37
NC_000016.8:g.87240749T>C NCBI36
NG_007291.1:g.9210A>G , LRG_52:g.9210A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000101.4:c.204-2A>G MANE Select NP_000092.2:n.204-2A>G
ENST00000261623.8:c.204-2A>G MANE Select ENSP00000261623.3:n.204-2A>G
NM_000101.3:c.204-2A>G NP_000092.2:n.204-2A>G
ENST00000261623.7:c.204-2A>G ENSP00000261623.3:n.204-2A>G
ENST00000562209.1:n.482A>G
ENST00000563526.5:n.179-2A>G
ENST00000565588.6:c.204-2A>G ENSP00000455537.2:n.204-2A>G
ENST00000566229.1:c.193-2A>G ENSP00000457060.1:n.193-2A>G
ENST00000566534.5:n.226-2A>G
ENST00000567174.5:c.204-2A>G ENSP00000454951.1:n.204-2A>G
ENST00000568278.1:c.204-2A>G ENSP00000455506.1:n.204-2A>G
ENST00000569359.5:c.204-2A>G ENSP00000456079.1:n.204-2A>G
ENST00000696156.1:c.203+261A>G ENSP00000512446.1:n.203+261A>G
ENST00000696157.1:c.204-2A>G ENSP00000512447.1:n.204-2A>G
ENST00000696158.1:c.204-2A>G ENSP00000512448.1:n.204-2A>G
ENST00000696159.1:c.204-2A>G ENSP00000512449.1:n.204-2A>G
ENST00000696160.1:c.204-2A>G ENSP00000512450.1:n.204-2A>G
ENST00000696161.1:c.332A>G ENSP00000512451.1:p.Gln111Arg
ENST00000696162.1:c.204-2A>G ENSP00000512452.1:n.204-2A>G
ENST00000696163.1:c.204-53A>G ENSP00000512453.1:n.204-53A>G
XM_011522905.1:c.204-2A>G XP_011521207.1:n.204-2A>G
XM_011522905.3:c.204-2A>G XP_011521207.1:n.204-2A>G