Canonical Allele Identifier: CA675782666

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>A , CM000673.2:g.34454992C>A	GRCh38
NC_000011.9:g.34476539C>A , CM000673.1:g.34476539C>A	GRCh37
NC_000011.8:g.34433115C>A	NCBI36
NG_013339.1:g.21068C>A
NG_013339.2:g.21068C>A

Transcript Alleles

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