Canonical Allele Identifier: CA3298247
Gene: CARTPT HGNC NCBI

Linked Data

dbSNP Id: rs780062993
ExAC: 5:71015070 C / T
gnomAD v2: 5-71015070-C-T
gnomAD v3: 5-71719243-C-T
gnomAD v4: 5-71719243-C-T
MyVariant Identifiers: chr5:g.71015070C>T (hg19) chr5:g.71719243C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719243C>T , CM000667.2:g.71719243C>T GRCh38
NC_000005.9:g.71015070C>T , CM000667.1:g.71015070C>T GRCh37
NC_000005.8:g.71050826C>T NCBI36
NG_015988.1:g.5081C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.4:c.-51C>T ENSP00000296777.4:n.-51C>T
NM_004291.3:c.-51C>T NP_004282.1:n.-51C>T
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