Canonical Allele Identifier: CA8228185

Gene: CYBA

Linked Data

• dbSNP Id: rs752613883
• ExAC: 16:88709830 C / A
• gnomAD v2: 16-88709830-C-A
• gnomAD v4: 16-88643422-C-A
• MyVariant Identifiers: chr16:g.88709830C>A (hg19) ; chr16:g.88643422C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88643422C>A , CM000678.2:g.88643422C>A	GRCh38
NC_000016.9:g.88709830C>A , CM000678.1:g.88709830C>A	GRCh37
NC_000016.8:g.87237331C>A	NCBI36
NG_007291.1:g.12628G>T , LRG_52:g.12628G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696156.1:c.435G>T	ENSP00000512446.1:p.Ala145=
ENST00000696157.1:c.*736G>T	ENSP00000512447.1:n.*736G>T
ENST00000696158.1:c.*773G>T	ENSP00000512448.1:n.*773G>T
ENST00000696159.1:c.*442G>T	ENSP00000512449.1:n.*442G>T
ENST00000696160.1:c.546G>T	ENSP00000512450.1:p.Ala182=
ENST00000696161.1:c.649G>T	ENSP00000512451.1:p.Gly217Cys
ENST00000696162.1:c.*1238G>T	ENSP00000512452.1:n.*1238G>T
ENST00000696163.1:c.468G>T	ENSP00000512453.1:p.Ala156=
ENST00000261623.8:c.519G>T MANE Select	ENSP00000261623.3:p.Ala173=
ENST00000261623.7:c.519G>T	ENSP00000261623.3:p.Ala173=
NM_000101.3:c.519G>T	NP_000092.2:p.Ala173=
NM_000101.4:c.519G>T MANE Select	NP_000092.2:p.Ala173=