Canonical Allele Identifier: CA286352463

Gene: CYBA

Linked Data

• ClinVar Variation Id: 1077648
• ClinVar RCV Id: RCV001392317
• dbSNP Id: rs1022986934
• gnomAD v3: 16-88646140-G-A
• gnomAD v4: 16-88646140-G-A
• MyVariant Identifiers: chr16:g.88712548G>A (hg19) ; chr16:g.88646140G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88646140G>A , CM000678.2:g.88646140G>A	GRCh38
NC_000016.9:g.88712548G>A , CM000678.1:g.88712548G>A	GRCh37
NC_000016.8:g.87240049G>A	NCBI36
NG_007291.1:g.9910C>T , LRG_52:g.9910C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000565588.6:c.345C>T	ENSP00000455537.2:p.Ala115=
ENST00000696156.1:c.261C>T	ENSP00000512446.1:p.Ala87=
ENST00000696157.1:c.345C>T	ENSP00000512447.1:p.Ala115=
ENST00000696158.1:c.345C>T	ENSP00000512448.1:p.Ala115=
ENST00000696159.1:c.345C>T	ENSP00000512449.1:p.Ala115=
ENST00000696160.1:c.345C>T	ENSP00000512450.1:p.Ala115=
ENST00000696161.1:c.475C>T	ENSP00000512451.1:p.His159Tyr
ENST00000696162.1:c.345C>T	ENSP00000512452.1:p.Ala115=
ENST00000696163.1:c.294C>T	ENSP00000512453.1:p.Ala98=
ENST00000261623.8:c.345C>T MANE Select	ENSP00000261623.3:p.Ala115=
ENST00000261623.7:c.345C>T	ENSP00000261623.3:p.Ala115=
ENST00000563526.5:n.877C>T
ENST00000565588.5:c.129C>T
ENST00000566229.1:c.334C>T	ENSP00000457060.1:p.His112Tyr
ENST00000566534.5:n.924C>T
ENST00000567174.5:c.345C>T	ENSP00000454951.1:p.Ala115=
ENST00000568278.1:c.429C>T	ENSP00000455506.1:p.Ala143=
ENST00000569359.5:c.345C>T	ENSP00000456079.1:p.Ala115=
NM_000101.3:c.345C>T	NP_000092.2:p.Ala115=
XM_011522905.1:c.345C>T	XP_011521207.1:p.Ala115=
XM_011522905.3:c.345C>T	XP_011521207.1:p.Ala115=
NM_000101.4:c.345C>T MANE Select	NP_000092.2:p.Ala115=