Canonical Allele Identifier: CA445021322
Gene: CARTPT HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.71015240C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719413C>T , CM000667.2:g.71719413C>T GRCh38
NC_000005.9:g.71015240C>T , CM000667.1:g.71015240C>T GRCh37
NC_000005.8:g.71050996C>T NCBI36
NG_015988.1:g.5251C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.120C>T MANE Select ENSP00000296777.4:p.Ile40=
ENST00000296777.4:c.120C>T ENSP00000296777.4:p.Ile40=
NM_004291.3:c.120C>T NP_004282.1:p.Ile40=
NM_004291.4:c.120C>T MANE Select NP_004282.1:p.Ile40=