Canonical Allele Identifier: CA5944171
Gene: CAT HGNC NCBI
COSMIC:
COSN26725883 (not active)
COSN26730191 (not active)
MyVariant.info:
GRCh38 chr11:g.34438994T>C
GRCh37 chr11:g.34460541T>C
gnomAD v2:
11:34460541 T / C
gnomAD v3:
11:34438994 T / C
gnomAD v4:
chr11-34438994-T-C
Joint Max Group AF 0.66850185 (NFE)
Genomes Max Group AF 0.65871091 (NFE)
Exomes Max Group AF 0.66883165 (NFE)
ClinVar RCV:
RCV000676054
ClinVar Variation:
559060
dbSNP:
1049982
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.34438994T>C , CM000673.2:g.34438994T>C GRCh38
NC_000011.9:g.34460541T>C , CM000673.1:g.34460541T>C GRCh37
NC_000011.8:g.34417117T>C NCBI36
NG_013339.1:g.5070T>C
NG_013339.2:g.5070T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000241052.5:c.-20T>C MANE Select ENSP00000241052.4:n.-20T>C
ENST00000241052.4:c.-20T>C ENSP00000241052.4:n.-20T>C
NM_001752.3:c.-20T>C NP_001743.1:n.-20T>C
NM_001752.4:c.-20T>C MANE Select NP_001743.1:n.-20T>C
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