Canonical Allele Identifier: CA360104301
Gene: CARTPT HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.71015189G>C (hg19) chr5:g.71719362G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719362G>C , CM000667.2:g.71719362G>C GRCh38
NC_000005.9:g.71015189G>C , CM000667.1:g.71015189G>C GRCh37
NC_000005.8:g.71050945G>C NCBI36
NG_015988.1:g.5200G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.69G>C MANE Select ENSP00000296777.4:p.Leu23Phe
ENST00000296777.4:c.69G>C ENSP00000296777.4:p.Leu23Phe
NM_004291.3:c.69G>C NP_004282.1:p.Leu23Phe
NM_004291.4:c.69G>C MANE Select NP_004282.1:p.Leu23Phe
Search 100 bp 5'
Search 100 bp 3'