Canonical Allele Identifier: CA5944548
Gene: CAT HGNC NCBI
COSMIC:
COSM4419902 (not active)
MyVariant.info:
GRCh38 chr11:g.34461361C>T
GRCh37 chr11:g.34482908C>T
gnomAD v2:
11:34482908 C / T
gnomAD v3:
11:34461361 C / T
gnomAD v4:
chr11-34461361-C-T
Joint Max Group AF 0.44934346 (EAS)
Genomes Max Group AF 0.4601031 (EAS)
Exomes Max Group AF 0.44627293 (EAS)
ClinVar RCV:
RCV000676055
ClinVar Variation:
559061
dbSNP:
769217
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.34461361C>T , CM000673.2:g.34461361C>T GRCh38
NC_000011.9:g.34482908C>T , CM000673.1:g.34482908C>T GRCh37
NC_000011.8:g.34439484C>T NCBI36
NG_013339.1:g.27437C>T
NG_013339.2:g.27437C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000241052.5:c.1167C>T MANE Select ENSP00000241052.4:p.Asp389=
ENST00000650153.1:c.1153C>T
ENST00000241052.4:c.1167C>T ENSP00000241052.4:p.Asp389=
ENST00000525707.1:n.159C>T
ENST00000530343.1:n.629C>T
NM_001752.3:c.1167C>T NP_001743.1:p.Asp389=
NM_001752.4:c.1167C>T MANE Select NP_001743.1:p.Asp389=
Search 100 bp 5'
Search 100 bp 3'