Canonical Allele Identifier: CA3298253
Gene: CARTPT HGNC NCBI

Linked Data

dbSNP Id: rs776647375
ExAC: 5:71015105 G / C
gnomAD v2: 5-71015105-G-C
gnomAD v4: 5-71719278-G-C
MyVariant Identifiers: chr5:g.71015105G>C (hg19) chr5:g.71719278G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719278G>C , CM000667.2:g.71719278G>C GRCh38
NC_000005.9:g.71015105G>C , CM000667.1:g.71015105G>C GRCh37
NC_000005.8:g.71050861G>C NCBI36
NG_015988.1:g.5116G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.-16G>C MANE Select ENSP00000296777.4:n.-16G>C
ENST00000296777.4:c.-16G>C ENSP00000296777.4:n.-16G>C
NM_004291.3:c.-16G>C NP_004282.1:n.-16G>C
NM_004291.4:c.-16G>C MANE Select NP_004282.1:n.-16G>C
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