Canonical Allele Identifier: CA397064595
Community Standard Title: NM_000101.4(CYBA):c.214T>G (p.Tyr72Asp)
Gene: CYBA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88646828A>C , CM000678.2:g.88646828A>C GRCh38
NC_000016.9:g.88713236A>C , CM000678.1:g.88713236A>C GRCh37
NC_000016.8:g.87240737A>C NCBI36
NG_007291.1:g.9222T>G , LRG_52:g.9222T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000101.4:c.214T>G MANE Select NP_000092.2:p.Tyr72Asp
ENST00000261623.8:c.214T>G MANE Select ENSP00000261623.3:p.Tyr72Asp
NM_000101.3:c.214T>G NP_000092.2:p.Tyr72Asp
ENST00000261623.7:c.214T>G ENSP00000261623.3:p.Tyr72Asp
ENST00000562209.1:n.494T>G
ENST00000563526.5:n.189T>G
ENST00000565588.6:c.214T>G ENSP00000455537.2:p.Tyr72Asp
ENST00000566229.1:c.203T>G ENSP00000457060.1:p.Val68Gly
ENST00000566534.5:n.236T>G
ENST00000567174.5:c.214T>G ENSP00000454951.1:p.Tyr72Asp
ENST00000568278.1:c.214T>G ENSP00000455506.1:p.Tyr72Asp
ENST00000569359.5:c.214T>G ENSP00000456079.1:p.Tyr72Asp
ENST00000696156.1:c.203+273T>G ENSP00000512446.1:n.203+273T>G
ENST00000696157.1:c.214T>G ENSP00000512447.1:p.Tyr72Asp
ENST00000696158.1:c.214T>G ENSP00000512448.1:p.Tyr72Asp
ENST00000696159.1:c.214T>G ENSP00000512449.1:p.Tyr72Asp
ENST00000696160.1:c.214T>G ENSP00000512450.1:p.Tyr72Asp
ENST00000696161.1:c.344T>G ENSP00000512451.1:p.Val115Gly
ENST00000696162.1:c.214T>G ENSP00000512452.1:p.Tyr72Asp
ENST00000696163.1:c.204-41T>G ENSP00000512453.1:n.204-41T>G
XM_011522905.1:c.214T>G XP_011521207.1:p.Tyr72Asp
XM_011522905.3:c.214T>G XP_011521207.1:p.Tyr72Asp