Canonical Allele Identifier: CA624448015

Gene: CYBA

Linked Data

• dbSNP Id: rs1230426266
• gnomAD v2: 16-88709744-G-A
• gnomAD v4: 16-88643336-G-A
• MyVariant Identifiers: chr16:g.88709744G>A (hg19) ; chr16:g.88643336G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88643336G>A , CM000678.2:g.88643336G>A	GRCh38
NC_000016.9:g.88709744G>A , CM000678.1:g.88709744G>A	GRCh37
NC_000016.8:g.87237245G>A	NCBI36
NG_007291.1:g.12714C>T , LRG_52:g.12714C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696156.1:c.*17C>T	ENSP00000512446.1:n.*17C>T
ENST00000696157.1:c.*822C>T	ENSP00000512447.1:n.*822C>T
ENST00000696158.1:c.*859C>T	ENSP00000512448.1:n.*859C>T
ENST00000696159.1:c.*528C>T	ENSP00000512449.1:n.*528C>T
ENST00000696160.1:c.*17C>T	ENSP00000512450.1:n.*17C>T
ENST00000696161.1:c.735C>T	ENSP00000512451.1:p.Cys245=
ENST00000696162.1:c.*1324C>T	ENSP00000512452.1:n.*1324C>T
ENST00000696163.1:c.*17C>T	ENSP00000512453.1:n.*17C>T
ENST00000261623.8:c.*17C>T MANE Select	ENSP00000261623.3:n.*17C>T
ENST00000261623.7:c.*17C>T	ENSP00000261623.3:n.*17C>T
NM_000101.3:c.*17C>T	NP_000092.2:n.*17C>T
NM_000101.4:c.*17C>T MANE Select	NP_000092.2:n.*17C>T