Canonical Allele Identifier: CA445021310
Gene: CARTPT HGNC NCBI

Linked Data

dbSNP Id: rs1355722933
gnomAD v2: 5-71015226-C-A
gnomAD v4: 5-71719399-C-A
MyVariant Identifiers: chr5:g.71015226C>A (hg19) chr5:g.71719399C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719399C>A , CM000667.2:g.71719399C>A GRCh38
NC_000005.9:g.71015226C>A , CM000667.1:g.71015226C>A GRCh37
NC_000005.8:g.71050982C>A NCBI36
NG_015988.1:g.5237C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.106C>A MANE Select ENSP00000296777.4:p.Arg36=
ENST00000296777.4:c.106C>A ENSP00000296777.4:p.Arg36=
NM_004291.3:c.106C>A NP_004282.1:p.Arg36=
NM_004291.4:c.106C>A MANE Select NP_004282.1:p.Arg36=
Search 100 bp 5'
Search 100 bp 3'