Canonical Allele Identifier: CA3298278
Gene: CARTPT HGNC NCBI

Linked Data

dbSNP Id: rs372413454
ExAC: 5:71015248 C / T
gnomAD v2: 5-71015248-C-T
gnomAD v4: 5-71719421-C-T
MyVariant Identifiers: chr5:g.71015248C>T (hg19) chr5:g.71719421C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719421C>T , CM000667.2:g.71719421C>T GRCh38
NC_000005.9:g.71015248C>T , CM000667.1:g.71015248C>T GRCh37
NC_000005.8:g.71051004C>T NCBI36
NG_015988.1:g.5259C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.128C>T MANE Select ENSP00000296777.4:p.Ala43Val
ENST00000296777.4:c.128C>T ENSP00000296777.4:p.Ala43Val
NM_004291.3:c.128C>T NP_004282.1:p.Ala43Val
NM_004291.4:c.128C>T MANE Select NP_004282.1:p.Ala43Val
Search 100 bp 5'
Search 100 bp 3'