Canonical Allele Identifier: CA397065039

Gene: CYBA

Linked Data

• ClinVar Variation Id: 1558903
• ClinVar RCV Id: RCV002200306
• dbSNP Id: rs748709840
• MyVariant Identifiers: chr16:g.88713559C>G (hg19) ; chr16:g.88647151C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88647151C>G , CM000678.2:g.88647151C>G	GRCh38
NC_000016.9:g.88713559C>G , CM000678.1:g.88713559C>G	GRCh37
NC_000016.8:g.87241060C>G	NCBI36
NG_007291.1:g.8899G>C , LRG_52:g.8899G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000565588.6:c.153G>C	ENSP00000455537.2:p.Leu51=
ENST00000696156.1:c.153G>C	ENSP00000512446.1:p.Leu51=
ENST00000696157.1:c.153G>C	ENSP00000512447.1:p.Leu51=
ENST00000696158.1:c.153G>C	ENSP00000512448.1:p.Leu51=
ENST00000696159.1:c.153G>C	ENSP00000512449.1:p.Leu51=
ENST00000696160.1:c.153G>C	ENSP00000512450.1:p.Leu51=
ENST00000696161.1:c.153G>C	ENSP00000512451.1:p.Leu51=
ENST00000696162.1:c.153G>C	ENSP00000512452.1:p.Leu51=
ENST00000696163.1:c.153G>C	ENSP00000512453.1:p.Leu51=
ENST00000261623.8:c.153G>C MANE Select	ENSP00000261623.3:p.Leu51=
ENST00000261623.7:c.153G>C	ENSP00000261623.3:p.Leu51=
ENST00000562209.1:n.171G>C
ENST00000563526.5:n.128G>C
ENST00000566229.1:c.142G>C	ENSP00000457060.1:p.Ala48Pro
ENST00000566534.5:n.175G>C
ENST00000567174.5:c.153G>C	ENSP00000454951.1:p.Leu51=
ENST00000568278.1:c.153G>C	ENSP00000455506.1:p.Leu51=
ENST00000569359.5:c.153G>C	ENSP00000456079.1:p.Leu51=
NM_000101.3:c.153G>C	NP_000092.2:p.Leu51=
XM_011522905.1:c.153G>C	XP_011521207.1:p.Leu51=
XM_011522905.3:c.153G>C	XP_011521207.1:p.Leu51=
NM_000101.4:c.153G>C MANE Select	NP_000092.2:p.Leu51=