Canonical Allele Identifier: CA220416532

Gene: CAT

Genomic Alleles

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

Transcript Alleles

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