Canonical Allele Identifier: CA120740050
Gene: CARTPT HGNC NCBI

Linked Data

dbSNP Id: rs1045321671
gnomAD v2: 5-71015068-C-T
gnomAD v3: 5-71719241-C-T
gnomAD v4: 5-71719241-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719241C>T , CM000667.2:g.71719241C>T GRCh38
NC_000005.9:g.71015068C>T , CM000667.1:g.71015068C>T GRCh37
NC_000005.8:g.71050824C>T NCBI36
NG_015988.1:g.5079C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.4:c.-53C>T ENSP00000296777.4:n.-53C>T
NM_004291.3:c.-53C>T NP_004282.1:n.-53C>T