Canonical Allele Identifier: CA2674169331
Gene: CARTPT HGNC NCBI

Linked Data

gnomAD v4: 5-71719591-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719591T>G , CM000667.2:g.71719591T>G GRCh38
NC_000005.9:g.71015418T>G , CM000667.1:g.71015418T>G GRCh37
NC_000005.8:g.71051174T>G NCBI36
NG_015988.1:g.5429T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.159+139T>G MANE Select ENSP00000296777.4:n.159+139T>G
ENST00000296777.4:c.159+139T>G ENSP00000296777.4:n.159+139T>G
ENST00000513096.1:n.13T>G
NM_004291.3:c.159+139T>G NP_004282.1:n.159+139T>G
NM_004291.4:c.159+139T>G MANE Select NP_004282.1:n.159+139T>G
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