Canonical Allele Identifier: CA220432832

Gene: CAT

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34454992C>T , CM000673.2:g.34454992C>T	GRCh38
NC_000011.9:g.34476539C>T , CM000673.1:g.34476539C>T	GRCh37
NC_000011.8:g.34433115C>T	NCBI36
NG_013339.1:g.21068C>T
NG_013339.2:g.21068C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241052.5:c.712-1019C>T MANE Select	ENSP00000241052.4:n.712-1019C>T
ENST00000528104.2:n.82-1019C>T
ENST00000650153.1:c.626-1019C>T
ENST00000241052.4:c.712-1019C>T	ENSP00000241052.4:n.712-1019C>T
NM_001752.3:c.712-1019C>T	NP_001743.1:n.712-1019C>T
NM_001752.4:c.712-1019C>T MANE Select	NP_001743.1:n.712-1019C>T