Canonical Allele Identifier: CA8228157
Gene: CYBA HGNC NCBI
COSMIC:
COSN26650567 (not active)
MyVariant.info:
GRCh38 chr16:g.88643329C>T
GRCh37 chr16:g.88709737C>T
gnomAD v2:
16:88709737 C / T
gnomAD v3:
16:88643329 C / T
gnomAD v4:
chr16-88643329-C-T
Joint Max Group AF 0.54332702 (MID)
Genomes Max Group AF 0.50581705 (NFE)
Exomes Max Group AF 0.54098995 (MID)
ClinVar Allele:
1157886
ClinVar RCV:
RCV001515737
RCV001538508
RCV003487347
ClinVar Variation:
1166946
dbSNP:
1049255
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88643329C>T , CM000678.2:g.88643329C>T GRCh38
NC_000016.9:g.88709737C>T , CM000678.1:g.88709737C>T GRCh37
NC_000016.8:g.87237238C>T NCBI36
NG_007291.1:g.12721G>A , LRG_52:g.12721G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696156.1:c.*24G>A ENSP00000512446.1:n.*24G>A
ENST00000696157.1:c.*829G>A ENSP00000512447.1:n.*829G>A
ENST00000696158.1:c.*866G>A ENSP00000512448.1:n.*866G>A
ENST00000696159.1:c.*535G>A ENSP00000512449.1:n.*535G>A
ENST00000696160.1:c.*24G>A ENSP00000512450.1:n.*24G>A
ENST00000696161.1:c.742G>A ENSP00000512451.1:p.Ala248Thr
ENST00000696162.1:c.*1331G>A ENSP00000512452.1:n.*1331G>A
ENST00000696163.1:c.*24G>A ENSP00000512453.1:n.*24G>A
ENST00000261623.8:c.*24G>A MANE Select ENSP00000261623.3:n.*24G>A
ENST00000261623.7:c.*24G>A ENSP00000261623.3:n.*24G>A
NM_000101.3:c.*24G>A NP_000092.2:n.*24G>A
NM_000101.4:c.*24G>A MANE Select NP_000092.2:n.*24G>A
Search 100 bp 5'
Search 100 bp 3'