Canonical Allele Identifier: CA397062915

Gene: CYBA

Linked Data

• MyVariant Identifiers: chr16:g.88712547T>G (hg19) ; chr16:g.88646139T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88646139T>G , CM000678.2:g.88646139T>G	GRCh38
NC_000016.9:g.88712547T>G , CM000678.1:g.88712547T>G	GRCh37
NC_000016.8:g.87240048T>G	NCBI36
NG_007291.1:g.9911A>C , LRG_52:g.9911A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000565588.6:c.346A>C	ENSP00000455537.2:p.Ile116Leu
ENST00000696156.1:c.262A>C	ENSP00000512446.1:p.Ile88Leu
ENST00000696157.1:c.346A>C	ENSP00000512447.1:p.Ile116Leu
ENST00000696158.1:c.346A>C	ENSP00000512448.1:p.Ile116Leu
ENST00000696159.1:c.346A>C	ENSP00000512449.1:p.Ile116Leu
ENST00000696160.1:c.346A>C	ENSP00000512450.1:p.Ile116Leu
ENST00000696161.1:c.476A>C	ENSP00000512451.1:p.His159Pro
ENST00000696162.1:c.346A>C	ENSP00000512452.1:p.Ile116Leu
ENST00000696163.1:c.295A>C	ENSP00000512453.1:p.Ile99Leu
ENST00000261623.8:c.346A>C MANE Select	ENSP00000261623.3:p.Ile116Leu
ENST00000261623.7:c.346A>C	ENSP00000261623.3:p.Ile116Leu
ENST00000563526.5:n.878A>C
ENST00000565588.5:c.130A>C
ENST00000566229.1:c.335A>C	ENSP00000457060.1:p.His112Pro
ENST00000566534.5:n.925A>C
ENST00000567174.5:c.346A>C	ENSP00000454951.1:p.Ile116Leu
ENST00000568278.1:c.430A>C	ENSP00000455506.1:p.Ile144Leu
ENST00000569359.5:c.346A>C	ENSP00000456079.1:p.Ile116Leu
NM_000101.3:c.346A>C	NP_000092.2:p.Ile116Leu
XM_011522905.1:c.346A>C	XP_011521207.1:p.Ile116Leu
XM_011522905.3:c.346A>C	XP_011521207.1:p.Ile116Leu
NM_000101.4:c.346A>C MANE Select	NP_000092.2:p.Ile116Leu