Canonical Allele Identifier: CA445021326
Gene: CARTPT HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.71015246T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719419T>C , CM000667.2:g.71719419T>C GRCh38
NC_000005.9:g.71015246T>C , CM000667.1:g.71015246T>C GRCh37
NC_000005.8:g.71051002T>C NCBI36
NG_015988.1:g.5257T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.126T>C MANE Select ENSP00000296777.4:p.Ser42=
ENST00000296777.4:c.126T>C ENSP00000296777.4:p.Ser42=
NM_004291.3:c.126T>C NP_004282.1:p.Ser42=
NM_004291.4:c.126T>C MANE Select NP_004282.1:p.Ser42=