Canonical Allele Identifier: CA15682569
Gene: CAT HGNC NCBI

Linked Data

dbSNP Id: rs2284367
gnomAD v2: 11-34484542-T-C
gnomAD v3: 11-34462995-T-C
gnomAD v4: 11-34462995-T-C
MyVariant Identifiers: chr11:g.34484542T>C (hg19) chr11:g.34462995T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.34462995T>C , CM000673.2:g.34462995T>C GRCh38
NC_000011.9:g.34484542T>C , CM000673.1:g.34484542T>C GRCh37
NC_000011.8:g.34441118T>C NCBI36
NG_013339.1:g.29071T>C
NG_013339.2:g.29071T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000241052.5:c.1196-1110T>C MANE Select ENSP00000241052.4:n.1196-1110T>C
ENST00000241052.4:c.1196-1110T>C ENSP00000241052.4:n.1196-1110T>C
ENST00000525707.1:n.188-1110T>C
ENST00000530343.1:n.658-1110T>C
NM_001752.3:c.1196-1110T>C NP_001743.1:n.1196-1110T>C
NM_001752.4:c.1196-1110T>C MANE Select NP_001743.1:n.1196-1110T>C
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