Canonical Allele Identifier: CA397062858

Gene: CYBA

Linked Data

• gnomAD v4: 16-88646133-T-C
• MyVariant Identifiers: chr16:g.88712541T>C (hg19) ; chr16:g.88646133T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88646133T>C , CM000678.2:g.88646133T>C	GRCh38
NC_000016.9:g.88712541T>C , CM000678.1:g.88712541T>C	GRCh37
NC_000016.8:g.87240042T>C	NCBI36
NG_007291.1:g.9917A>G , LRG_52:g.9917A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000565588.6:c.352A>G	ENSP00000455537.2:p.Ser118Gly
ENST00000696156.1:c.268A>G	ENSP00000512446.1:p.Ser90Gly
ENST00000696157.1:c.352A>G	ENSP00000512447.1:p.Ser118Gly
ENST00000696158.1:c.352A>G	ENSP00000512448.1:p.Ser118Gly
ENST00000696159.1:c.352A>G	ENSP00000512449.1:p.Ser118Gly
ENST00000696160.1:c.352A>G	ENSP00000512450.1:p.Ser118Gly
ENST00000696161.1:c.482A>G	ENSP00000512451.1:p.Glu161Gly
ENST00000696162.1:c.352A>G	ENSP00000512452.1:p.Ser118Gly
ENST00000696163.1:c.301A>G	ENSP00000512453.1:p.Ser101Gly
ENST00000261623.8:c.352A>G MANE Select	ENSP00000261623.3:p.Ser118Gly
ENST00000261623.7:c.352A>G	ENSP00000261623.3:p.Ser118Gly
ENST00000563526.5:n.884A>G
ENST00000565588.5:c.136A>G
ENST00000566229.1:c.341A>G	ENSP00000457060.1:p.Glu114Gly
ENST00000566534.5:n.931A>G
ENST00000567174.5:c.352A>G	ENSP00000454951.1:p.Ser118Gly
ENST00000568278.1:c.436A>G
ENST00000569359.5:c.352A>G	ENSP00000456079.1:p.Ser118Gly
NM_000101.3:c.352A>G	NP_000092.2:p.Ser118Gly
XM_011522905.1:c.352A>G	XP_011521207.1:p.Ser118Gly
XM_011522905.3:c.352A>G	XP_011521207.1:p.Ser118Gly
NM_000101.4:c.352A>G MANE Select	NP_000092.2:p.Ser118Gly