Canonical Allele Identifier: CA3298264
Gene: CARTPT HGNC NCBI

Linked Data

dbSNP Id: rs372232321
ExAC: 5:71015169 C / G
gnomAD v2: 5-71015169-C-G
gnomAD v4: 5-71719342-C-G
MyVariant Identifiers: chr5:g.71015169C>G (hg19) chr5:g.71719342C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719342C>G , CM000667.2:g.71719342C>G GRCh38
NC_000005.9:g.71015169C>G , CM000667.1:g.71015169C>G GRCh37
NC_000005.8:g.71050925C>G NCBI36
NG_015988.1:g.5180C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.49C>G MANE Select ENSP00000296777.4:p.Leu17Val
ENST00000296777.4:c.49C>G ENSP00000296777.4:p.Leu17Val
NM_004291.3:c.49C>G NP_004282.1:p.Leu17Val
NM_004291.4:c.49C>G MANE Select NP_004282.1:p.Leu17Val
Search 100 bp 5'
Search 100 bp 3'