Canonical Allele Identifier: CA560375490
Gene: CARTPT HGNC NCBI

Linked Data

dbSNP Id: rs1411878154
gnomAD v2: 5-71015107-C-T
gnomAD v4: 5-71719280-C-T
COSMIC: COSN24411381
MyVariant Identifiers: chr5:g.71015107C>T (hg19) chr5:g.71719280C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719280C>T , CM000667.2:g.71719280C>T GRCh38
NC_000005.9:g.71015107C>T , CM000667.1:g.71015107C>T GRCh37
NC_000005.8:g.71050863C>T NCBI36
NG_015988.1:g.5118C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.-14C>T MANE Select ENSP00000296777.4:n.-14C>T
ENST00000296777.4:c.-14C>T ENSP00000296777.4:n.-14C>T
NM_004291.3:c.-14C>T NP_004282.1:n.-14C>T
NM_004291.4:c.-14C>T MANE Select NP_004282.1:n.-14C>T
Search 100 bp 5'
Search 100 bp 3'