Canonical Allele Identifier: CA397065101

Gene: CYBA

Linked Data

• MyVariant Identifiers: chr16:g.88713582C>G (hg19) ; chr16:g.88647174C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88647174C>G , CM000678.2:g.88647174C>G	GRCh38
NC_000016.9:g.88713582C>G , CM000678.1:g.88713582C>G	GRCh37
NC_000016.8:g.87241083C>G	NCBI36
NG_007291.1:g.8876G>C , LRG_52:g.8876G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000565588.6:c.130G>C	ENSP00000455537.2:p.Val44Leu
ENST00000696156.1:c.130G>C	ENSP00000512446.1:p.Val44Leu
ENST00000696157.1:c.130G>C	ENSP00000512447.1:p.Val44Leu
ENST00000696158.1:c.130G>C	ENSP00000512448.1:p.Val44Leu
ENST00000696159.1:c.130G>C	ENSP00000512449.1:p.Val44Leu
ENST00000696160.1:c.130G>C	ENSP00000512450.1:p.Val44Leu
ENST00000696161.1:c.130G>C	ENSP00000512451.1:p.Val44Leu
ENST00000696162.1:c.130G>C	ENSP00000512452.1:p.Val44Leu
ENST00000696163.1:c.130G>C	ENSP00000512453.1:p.Val44Leu
ENST00000261623.8:c.130G>C MANE Select	ENSP00000261623.3:p.Val44Leu
ENST00000261623.7:c.130G>C	ENSP00000261623.3:p.Val44Leu
ENST00000562209.1:n.148G>C
ENST00000563526.5:n.105G>C
ENST00000566229.1:c.119G>C	ENSP00000457060.1:p.Cys40Ser
ENST00000566534.5:n.152G>C
ENST00000567174.5:c.130G>C	ENSP00000454951.1:p.Val44Leu
ENST00000568278.1:c.130G>C	ENSP00000455506.1:p.Val44Leu
ENST00000569359.5:c.130G>C	ENSP00000456079.1:p.Val44Leu
NM_000101.3:c.130G>C	NP_000092.2:p.Val44Leu
XM_011522905.1:c.130G>C	XP_011521207.1:p.Val44Leu
XM_011522905.3:c.130G>C	XP_011521207.1:p.Val44Leu
NM_000101.4:c.130G>C MANE Select	NP_000092.2:p.Val44Leu