Canonical Allele Identifier: CA445021337
Gene: CARTPT HGNC NCBI

Linked Data

gnomAD v4: 5-71719437-C-T
MyVariant Identifiers: chr5:g.71015264C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719437C>T , CM000667.2:g.71719437C>T GRCh38
NC_000005.9:g.71015264C>T , CM000667.1:g.71015264C>T GRCh37
NC_000005.8:g.71051020C>T NCBI36
NG_015988.1:g.5275C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.144C>T MANE Select ENSP00000296777.4:p.Ser48=
ENST00000296777.4:c.144C>T ENSP00000296777.4:p.Ser48=
NM_004291.3:c.144C>T NP_004282.1:p.Ser48=
NM_004291.4:c.144C>T MANE Select NP_004282.1:p.Ser48=
Search 100 bp 5'
Search 100 bp 3'