Canonical Allele Identifier: CA497362099

Gene: CYBA

Linked Data

• dbSNP Id: rs1206595297
• gnomAD v4: 16-88643404-G-T
• MyVariant Identifiers: chr16:g.88709812G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88643404G>T , CM000678.2:g.88643404G>T	GRCh38
NC_000016.9:g.88709812G>T , CM000678.1:g.88709812G>T	GRCh37
NC_000016.8:g.87237313G>T	NCBI36
NG_007291.1:g.12646C>A , LRG_52:g.12646C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696156.1:c.453C>A	ENSP00000512446.1:p.Pro151=
ENST00000696157.1:c.*754C>A	ENSP00000512447.1:n.*754C>A
ENST00000696158.1:c.*791C>A	ENSP00000512448.1:n.*791C>A
ENST00000696159.1:c.*460C>A	ENSP00000512449.1:n.*460C>A
ENST00000696160.1:c.564C>A	ENSP00000512450.1:p.Pro188=
ENST00000696161.1:c.667C>A	ENSP00000512451.1:p.Pro223Thr
ENST00000696162.1:c.*1256C>A	ENSP00000512452.1:n.*1256C>A
ENST00000696163.1:c.486C>A	ENSP00000512453.1:p.Pro162=
ENST00000261623.8:c.537C>A MANE Select	ENSP00000261623.3:p.Pro179=
ENST00000261623.7:c.537C>A	ENSP00000261623.3:p.Pro179=
NM_000101.3:c.537C>A	NP_000092.2:p.Pro179=
NM_000101.4:c.537C>A MANE Select	NP_000092.2:p.Pro179=