Canonical Allele Identifier: CA120740088
Gene: CARTPT HGNC NCBI
COSMIC:
COSN14947719 (not active)
MyVariant.info:
GRCh38 chr5:g.71719676A>G
GRCh37 chr5:g.71015503A>G
gnomAD v2:
5:71015503 A / G
gnomAD v3:
5:71719676 A / G
gnomAD v4:
chr5-71719676-A-G
Joint Max Group AF 0.88868633 (AFR)
Genomes Max Group AF 0.8868298 (AFR)
Exomes Max Group AF 0.88475519 (AFR)
ClinVar RCV:
RCV001540923
ClinVar Variation:
1183143
dbSNP:
2239670
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719676A>G , CM000667.2:g.71719676A>G GRCh38
NC_000005.9:g.71015503A>G , CM000667.1:g.71015503A>G GRCh37
NC_000005.8:g.71051259A>G NCBI36
NG_015988.1:g.5514A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.160-204A>G MANE Select ENSP00000296777.4:n.160-204A>G
ENST00000296777.4:c.160-204A>G ENSP00000296777.4:n.160-204A>G
ENST00000513096.1:n.98A>G
NM_004291.3:c.160-204A>G NP_004282.1:n.160-204A>G
NM_004291.4:c.160-204A>G MANE Select NP_004282.1:n.160-204A>G
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