Canonical Allele Identifier: CA8228160

Gene: CYBA

Linked Data

• dbSNP Id: rs750684206
• ExAC: 16:88709747 G / T
• gnomAD v2: 16-88709747-G-T
• gnomAD v4: 16-88643339-G-T
• MyVariant Identifiers: chr16:g.88709747G>T (hg19) ; chr16:g.88643339G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88643339G>T , CM000678.2:g.88643339G>T	GRCh38
NC_000016.9:g.88709747G>T , CM000678.1:g.88709747G>T	GRCh37
NC_000016.8:g.87237248G>T	NCBI36
NG_007291.1:g.12711C>A , LRG_52:g.12711C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696156.1:c.*14C>A	ENSP00000512446.1:n.*14C>A
ENST00000696157.1:c.*819C>A	ENSP00000512447.1:n.*819C>A
ENST00000696158.1:c.*856C>A	ENSP00000512448.1:n.*856C>A
ENST00000696159.1:c.*525C>A	ENSP00000512449.1:n.*525C>A
ENST00000696160.1:c.*14C>A	ENSP00000512450.1:n.*14C>A
ENST00000696161.1:c.732C>A	ENSP00000512451.1:p.Thr244=
ENST00000696162.1:c.*1321C>A	ENSP00000512452.1:n.*1321C>A
ENST00000696163.1:c.*14C>A	ENSP00000512453.1:n.*14C>A
ENST00000261623.8:c.*14C>A MANE Select	ENSP00000261623.3:n.*14C>A
ENST00000261623.7:c.*14C>A	ENSP00000261623.3:n.*14C>A
NM_000101.3:c.*14C>A	NP_000092.2:n.*14C>A
NM_000101.4:c.*14C>A MANE Select	NP_000092.2:n.*14C>A