Canonical Allele Identifier: CA397056346

Gene: CYBA

Linked Data

• dbSNP Id: rs1158937022
• gnomAD v4: 16-88643388-C-A
• MyVariant Identifiers: chr16:g.88709796C>A (hg19) ; chr16:g.88643388C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88643388C>A , CM000678.2:g.88643388C>A	GRCh38
NC_000016.9:g.88709796C>A , CM000678.1:g.88709796C>A	GRCh37
NC_000016.8:g.87237297C>A	NCBI36
NG_007291.1:g.12662G>T , LRG_52:g.12662G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696156.1:c.469G>T	ENSP00000512446.1:p.Val157Phe
ENST00000696157.1:c.*770G>T	ENSP00000512447.1:n.*770G>T
ENST00000696158.1:c.*807G>T	ENSP00000512448.1:n.*807G>T
ENST00000696159.1:c.*476G>T	ENSP00000512449.1:n.*476G>T
ENST00000696160.1:c.580G>T	ENSP00000512450.1:p.Val194Phe
ENST00000696161.1:c.683G>T	ENSP00000512451.1:p.Gly228Val
ENST00000696162.1:c.*1272G>T	ENSP00000512452.1:n.*1272G>T
ENST00000696163.1:c.502G>T	ENSP00000512453.1:p.Val168Phe
ENST00000261623.8:c.553G>T MANE Select	ENSP00000261623.3:p.Val185Phe
ENST00000261623.7:c.553G>T	ENSP00000261623.3:p.Val185Phe
NM_000101.3:c.553G>T	NP_000092.2:p.Val185Phe
NM_000101.4:c.553G>T MANE Select	NP_000092.2:p.Val185Phe