Canonical Allele Identifier: CA397056285

Gene: CYBA

Linked Data

• gnomAD v4: 16-88643381-G-T
• MyVariant Identifiers: chr16:g.88709789G>T (hg19) ; chr16:g.88643381G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88643381G>T , CM000678.2:g.88643381G>T	GRCh38
NC_000016.9:g.88709789G>T , CM000678.1:g.88709789G>T	GRCh37
NC_000016.8:g.87237290G>T	NCBI36
NG_007291.1:g.12669C>A , LRG_52:g.12669C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696156.1:c.476C>A	ENSP00000512446.1:p.Pro159His
ENST00000696157.1:c.*777C>A	ENSP00000512447.1:n.*777C>A
ENST00000696158.1:c.*814C>A	ENSP00000512448.1:n.*814C>A
ENST00000696159.1:c.*483C>A	ENSP00000512449.1:n.*483C>A
ENST00000696160.1:c.587C>A	ENSP00000512450.1:p.Pro196His
ENST00000696161.1:c.690C>A	ENSP00000512451.1:p.Pro230=
ENST00000696162.1:c.*1279C>A	ENSP00000512452.1:n.*1279C>A
ENST00000696163.1:c.509C>A	ENSP00000512453.1:p.Pro170His
ENST00000261623.8:c.560C>A MANE Select	ENSP00000261623.3:p.Pro187His
ENST00000261623.7:c.560C>A	ENSP00000261623.3:p.Pro187His
NM_000101.3:c.560C>A	NP_000092.2:p.Pro187His
NM_000101.4:c.560C>A MANE Select	NP_000092.2:p.Pro187His