Canonical Allele Identifier: CA3298252
Gene: CARTPT HGNC NCBI

Linked Data

dbSNP Id: rs770780074
ExAC: 5:71015104 C / A
gnomAD v2: 5-71015104-C-A
gnomAD v4: 5-71719277-C-A
MyVariant Identifiers: chr5:g.71015104C>A (hg19) chr5:g.71719277C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719277C>A , CM000667.2:g.71719277C>A GRCh38
NC_000005.9:g.71015104C>A , CM000667.1:g.71015104C>A GRCh37
NC_000005.8:g.71050860C>A NCBI36
NG_015988.1:g.5115C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.-17C>A MANE Select ENSP00000296777.4:n.-17C>A
ENST00000296777.4:c.-17C>A ENSP00000296777.4:n.-17C>A
NM_004291.3:c.-17C>A NP_004282.1:n.-17C>A
NM_004291.4:c.-17C>A MANE Select NP_004282.1:n.-17C>A
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