Canonical Allele Identifier: CA360104191
Gene: CARTPT HGNC NCBI

Linked Data

dbSNP Id: rs1282430527
gnomAD v4: 5-71719301-G-T
COSMIC: COSM6345931
MyVariant Identifiers: chr5:g.71015128G>T (hg19) chr5:g.71719301G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719301G>T , CM000667.2:g.71719301G>T GRCh38
NC_000005.9:g.71015128G>T , CM000667.1:g.71015128G>T GRCh37
NC_000005.8:g.71050884G>T NCBI36
NG_015988.1:g.5139G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.8G>T MANE Select ENSP00000296777.4:p.Ser3Ile
ENST00000296777.4:c.8G>T ENSP00000296777.4:p.Ser3Ile
NM_004291.3:c.8G>T NP_004282.1:p.Ser3Ile
NM_004291.4:c.8G>T MANE Select NP_004282.1:p.Ser3Ile
Search 100 bp 5'
Search 100 bp 3'