Canonical Allele Identifier: CA5944585

Gene: CAT

Linked Data

• ClinVar Variation Id: 559062
• ClinVar RCV Id: RCV000676056
• dbSNP Id: rs704724
• ExAC: 11:34485711 C / T
• gnomAD v2: 11-34485711-C-T
• gnomAD v3: 11-34464164-C-T
• gnomAD v4: 11-34464164-C-T
• MyVariant Identifiers: chr11:g.34485711C>T (hg19) ; chr11:g.34464164C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34464164C>T , CM000673.2:g.34464164C>T	GRCh38
NC_000011.9:g.34485711C>T , CM000673.1:g.34485711C>T	GRCh37
NC_000011.8:g.34442287C>T	NCBI36
NG_013339.1:g.30240C>T
NG_013339.2:g.30240C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000241052.5:c.1255C>T MANE Select	ENSP00000241052.4:p.Leu419=
ENST00000525707.2:n.54C>T
ENST00000241052.4:c.1255C>T	ENSP00000241052.4:p.Leu419=
ENST00000525707.1:n.247C>T
ENST00000530343.1:n.717C>T
NM_001752.3:c.1255C>T	NP_001743.1:p.Leu419=
NM_001752.4:c.1255C>T MANE Select	NP_001743.1:p.Leu419=