Canonical Allele Identifier: CA13481632
Community Standard Title: NM_001752.4(CAT):c.66+78C>T
Gene: CAT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.34439157C>T , CM000673.2:g.34439157C>T GRCh38
NC_000011.9:g.34460704C>T , CM000673.1:g.34460704C>T GRCh37
NC_000011.8:g.34417280C>T NCBI36
NG_013339.1:g.5233C>T
NG_013339.2:g.5233C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001752.4:c.66+78C>T MANE Select NP_001743.1:n.66+78C>T
ENST00000241052.5:c.66+78C>T MANE Select ENSP00000241052.4:n.66+78C>T
NM_001752.3:c.66+78C>T NP_001743.1:n.66+78C>T
ENST00000241052.4:c.66+78C>T ENSP00000241052.4:n.66+78C>T
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