Canonical Allele Identifier: CA2634842450
Community Standard Title: NM_000101.4(CYBA):c.288-12G>T
Gene: CYBA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88646209C>A , CM000678.2:g.88646209C>A GRCh38
NC_000016.9:g.88712617C>A , CM000678.1:g.88712617C>A GRCh37
NC_000016.8:g.87240118C>A NCBI36
NG_007291.1:g.9841G>T , LRG_52:g.9841G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000101.4:c.288-12G>T MANE Select NP_000092.2:n.288-12G>T
ENST00000261623.8:c.288-12G>T MANE Select ENSP00000261623.3:n.288-12G>T
NM_000101.3:c.288-12G>T NP_000092.2:n.288-12G>T
ENST00000261623.7:c.288-12G>T ENSP00000261623.3:n.288-12G>T
ENST00000562209.1:n.568-12G>T
ENST00000563526.5:n.808G>T
ENST00000565588.5:c.72-12G>T
ENST00000565588.6:c.288-12G>T ENSP00000455537.2:n.288-12G>T
ENST00000566229.1:c.277-12G>T ENSP00000457060.1:n.277-12G>T
ENST00000566534.5:n.855G>T
ENST00000567174.5:c.288-12G>T ENSP00000454951.1:n.288-12G>T
ENST00000568278.1:c.372-12G>T ENSP00000455506.1:n.372-12G>T
ENST00000569359.5:c.288-12G>T ENSP00000456079.1:n.288-12G>T
ENST00000696156.1:c.204-12G>T ENSP00000512446.1:n.204-12G>T
ENST00000696157.1:c.288-12G>T ENSP00000512447.1:n.288-12G>T
ENST00000696158.1:c.288-12G>T ENSP00000512448.1:n.288-12G>T
ENST00000696159.1:c.288-12G>T ENSP00000512449.1:n.288-12G>T
ENST00000696160.1:c.288-12G>T ENSP00000512450.1:n.288-12G>T
ENST00000696161.1:c.418-12G>T ENSP00000512451.1:n.418-12G>T
ENST00000696162.1:c.288-12G>T ENSP00000512452.1:n.288-12G>T
ENST00000696163.1:c.237-12G>T ENSP00000512453.1:n.237-12G>T
XM_011522905.1:c.288-12G>T XP_011521207.1:n.288-12G>T
XM_011522905.3:c.288-12G>T XP_011521207.1:n.288-12G>T