Canonical Allele Identifier: CA1554417243
Gene: CARTPT HGNC NCBI

Linked Data

dbSNP Id: rs1748668988
gnomAD v4: 5-71719767-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719767A>G , CM000667.2:g.71719767A>G GRCh38
NC_000005.9:g.71015594A>G , CM000667.1:g.71015594A>G GRCh37
NC_000005.8:g.71051350A>G NCBI36
NG_015988.1:g.5605A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.160-113A>G MANE Select ENSP00000296777.4:n.160-113A>G
ENST00000296777.4:c.160-113A>G ENSP00000296777.4:n.160-113A>G
ENST00000513096.1:n.189A>G
NM_004291.3:c.160-113A>G NP_004282.1:n.160-113A>G
NM_004291.4:c.160-113A>G MANE Select NP_004282.1:n.160-113A>G
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