Canonical Allele Identifier: CA397056257

Gene: CYBA

Linked Data

• gnomAD v4: 16-88643376-G-T
• MyVariant Identifiers: chr16:g.88709784G>T (hg19) ; chr16:g.88643376G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88643376G>T , CM000678.2:g.88643376G>T	GRCh38
NC_000016.9:g.88709784G>T , CM000678.1:g.88709784G>T	GRCh37
NC_000016.8:g.87237285G>T	NCBI36
NG_007291.1:g.12674C>A , LRG_52:g.12674C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696156.1:c.481C>A	ENSP00000512446.1:p.Pro161Thr
ENST00000696157.1:c.*782C>A	ENSP00000512447.1:n.*782C>A
ENST00000696158.1:c.*819C>A	ENSP00000512448.1:n.*819C>A
ENST00000696159.1:c.*488C>A	ENSP00000512449.1:n.*488C>A
ENST00000696160.1:c.592C>A	ENSP00000512450.1:p.Pro198Thr
ENST00000696161.1:c.695C>A	ENSP00000512451.1:p.Pro232His
ENST00000696162.1:c.*1284C>A	ENSP00000512452.1:n.*1284C>A
ENST00000696163.1:c.514C>A	ENSP00000512453.1:p.Pro172Thr
ENST00000261623.8:c.565C>A MANE Select	ENSP00000261623.3:p.Pro189Thr
ENST00000261623.7:c.565C>A	ENSP00000261623.3:p.Pro189Thr
NM_000101.3:c.565C>A	NP_000092.2:p.Pro189Thr
NM_000101.4:c.565C>A MANE Select	NP_000092.2:p.Pro189Thr