Canonical Allele Identifier: CA624448016

Gene: CYBA

Linked Data

• dbSNP Id: rs1310816562
• gnomAD v2: 16-88709745-C-A
• gnomAD v4: 16-88643337-C-A
• MyVariant Identifiers: chr16:g.88709745C>A (hg19) ; chr16:g.88643337C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88643337C>A , CM000678.2:g.88643337C>A	GRCh38
NC_000016.9:g.88709745C>A , CM000678.1:g.88709745C>A	GRCh37
NC_000016.8:g.87237246C>A	NCBI36
NG_007291.1:g.12713G>T , LRG_52:g.12713G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696156.1:c.*16G>T	ENSP00000512446.1:n.*16G>T
ENST00000696157.1:c.*821G>T	ENSP00000512447.1:n.*821G>T
ENST00000696158.1:c.*858G>T	ENSP00000512448.1:n.*858G>T
ENST00000696159.1:c.*527G>T	ENSP00000512449.1:n.*527G>T
ENST00000696160.1:c.*16G>T	ENSP00000512450.1:n.*16G>T
ENST00000696161.1:c.734G>T	ENSP00000512451.1:p.Cys245Phe
ENST00000696162.1:c.*1323G>T	ENSP00000512452.1:n.*1323G>T
ENST00000696163.1:c.*16G>T	ENSP00000512453.1:n.*16G>T
ENST00000261623.8:c.*16G>T MANE Select	ENSP00000261623.3:n.*16G>T
ENST00000261623.7:c.*16G>T	ENSP00000261623.3:n.*16G>T
NM_000101.3:c.*16G>T	NP_000092.2:n.*16G>T
NM_000101.4:c.*16G>T MANE Select	NP_000092.2:n.*16G>T