Canonical Allele Identifier: CA360104248
Gene: CARTPT HGNC NCBI

Linked Data

dbSNP Id: rs1314552851
gnomAD v2: 5-71015160-G-A
gnomAD v4: 5-71719333-G-A
COSMIC: COSM3856159
MyVariant Identifiers: chr5:g.71015160G>A (hg19) chr5:g.71719333G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719333G>A , CM000667.2:g.71719333G>A GRCh38
NC_000005.9:g.71015160G>A , CM000667.1:g.71015160G>A GRCh37
NC_000005.8:g.71050916G>A NCBI36
NG_015988.1:g.5171G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.40G>A MANE Select ENSP00000296777.4:p.Ala14Thr
ENST00000296777.4:c.40G>A ENSP00000296777.4:p.Ala14Thr
NM_004291.3:c.40G>A NP_004282.1:p.Ala14Thr
NM_004291.4:c.40G>A MANE Select NP_004282.1:p.Ala14Thr
Search 100 bp 5'
Search 100 bp 3'