Canonical Allele Identifier: CA13481632

Gene: CAT

Linked Data

• dbSNP Id: rs10836235
• gnomAD v2: 11-34460704-C-T
• gnomAD v3: 11-34439157-C-T
• gnomAD v4: 11-34439157-C-T
• MyVariant Identifiers: chr11:g.34460704C>T (hg19) ; chr11:g.34439157C>T (hg38)
• Allelic Epigenome: Alellic Epigenome (raw data)

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