Canonical Allele Identifier: CA360104251
Gene: CARTPT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719334C>T , CM000667.2:g.71719334C>T GRCh38
NC_000005.9:g.71015161C>T , CM000667.1:g.71015161C>T GRCh37
NC_000005.8:g.71050917C>T NCBI36
NG_015988.1:g.5172C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.41C>T MANE Select ENSP00000296777.4:p.Ala14Val
ENST00000296777.4:c.41C>T ENSP00000296777.4:p.Ala14Val
NM_004291.3:c.41C>T NP_004282.1:p.Ala14Val
NM_004291.4:c.41C>T MANE Select NP_004282.1:p.Ala14Val