Canonical Allele Identifier: CA813669950
Gene: CARTPT HGNC NCBI

Linked Data

dbSNP Id: rs1384033116
gnomAD v3: 5-71719240-T-A
gnomAD v4: 5-71719240-T-A
MyVariant Identifiers: chr5:g.71015067T>A (hg19) chr5:g.71719240T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719240T>A , CM000667.2:g.71719240T>A GRCh38
NC_000005.9:g.71015067T>A , CM000667.1:g.71015067T>A GRCh37
NC_000005.8:g.71050823T>A NCBI36
NG_015988.1:g.5078T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.4:c.-54T>A ENSP00000296777.4:n.-54T>A
NM_004291.3:c.-54T>A NP_004282.1:n.-54T>A
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