Canonical Allele Identifier: CA360104184
Gene: CARTPT HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.71015125A>C (hg19) chr5:g.71719298A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719298A>C , CM000667.2:g.71719298A>C GRCh38
NC_000005.9:g.71015125A>C , CM000667.1:g.71015125A>C GRCh37
NC_000005.8:g.71050881A>C NCBI36
NG_015988.1:g.5136A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.5A>C MANE Select ENSP00000296777.4:p.Glu2Ala
ENST00000296777.4:c.5A>C ENSP00000296777.4:p.Glu2Ala
NM_004291.3:c.5A>C NP_004282.1:p.Glu2Ala
NM_004291.4:c.5A>C MANE Select NP_004282.1:p.Glu2Ala
Search 100 bp 5'
Search 100 bp 3'