Canonical Allele Identifier: CA397064992

Gene: CYBA

Linked Data

• gnomAD v4: 16-88647132-T-C
• MyVariant Identifiers: chr16:g.88713540T>C (hg19) ; chr16:g.88647132T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88647132T>C , CM000678.2:g.88647132T>C	GRCh38
NC_000016.9:g.88713540T>C , CM000678.1:g.88713540T>C	GRCh37
NC_000016.8:g.87241041T>C	NCBI36
NG_007291.1:g.8918A>G , LRG_52:g.8918A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000565588.6:c.172A>G	ENSP00000455537.2:p.Lys58Glu
ENST00000696156.1:c.172A>G	ENSP00000512446.1:p.Lys58Glu
ENST00000696157.1:c.172A>G	ENSP00000512447.1:p.Lys58Glu
ENST00000696158.1:c.172A>G	ENSP00000512448.1:p.Lys58Glu
ENST00000696159.1:c.172A>G	ENSP00000512449.1:p.Lys58Glu
ENST00000696160.1:c.172A>G	ENSP00000512450.1:p.Lys58Glu
ENST00000696161.1:c.172A>G	ENSP00000512451.1:p.Lys58Glu
ENST00000696162.1:c.172A>G	ENSP00000512452.1:p.Lys58Glu
ENST00000696163.1:c.172A>G	ENSP00000512453.1:p.Lys58Glu
ENST00000261623.8:c.172A>G MANE Select	ENSP00000261623.3:p.Lys58Glu
ENST00000261623.7:c.172A>G	ENSP00000261623.3:p.Lys58Glu
ENST00000562209.1:n.190A>G
ENST00000563526.5:n.147A>G
ENST00000566229.1:c.161A>G	ENSP00000457060.1:p.Glu54Gly
ENST00000566534.5:n.194A>G
ENST00000567174.5:c.172A>G	ENSP00000454951.1:p.Lys58Glu
ENST00000568278.1:c.172A>G	ENSP00000455506.1:p.Lys58Glu
ENST00000569359.5:c.172A>G	ENSP00000456079.1:p.Lys58Glu
NM_000101.3:c.172A>G	NP_000092.2:p.Lys58Glu
XM_011522905.1:c.172A>G	XP_011521207.1:p.Lys58Glu
XM_011522905.3:c.172A>G	XP_011521207.1:p.Lys58Glu
NM_000101.4:c.172A>G MANE Select	NP_000092.2:p.Lys58Glu