Canonical Allele Identifier: CA360104421
Gene: CARTPT HGNC NCBI

Linked Data

COSMIC: COSM70009

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719418C>T , CM000667.2:g.71719418C>T GRCh38
NC_000005.9:g.71015245C>T , CM000667.1:g.71015245C>T GRCh37
NC_000005.8:g.71051001C>T NCBI36
NG_015988.1:g.5256C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.125C>T MANE Select ENSP00000296777.4:p.Ser42Phe
ENST00000296777.4:c.125C>T ENSP00000296777.4:p.Ser42Phe
NM_004291.3:c.125C>T NP_004282.1:p.Ser42Phe
NM_004291.4:c.125C>T MANE Select NP_004282.1:p.Ser42Phe