Canonical Allele Identifier: CA2674169494
Gene: CARTPT HGNC NCBI

Linked Data

gnomAD v4: 5-71719692-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719692G>T , CM000667.2:g.71719692G>T GRCh38
NC_000005.9:g.71015519G>T , CM000667.1:g.71015519G>T GRCh37
NC_000005.8:g.71051275G>T NCBI36
NG_015988.1:g.5530G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.160-188G>T MANE Select ENSP00000296777.4:n.160-188G>T
ENST00000296777.4:c.160-188G>T ENSP00000296777.4:n.160-188G>T
ENST00000513096.1:n.114G>T
NM_004291.3:c.160-188G>T NP_004282.1:n.160-188G>T
NM_004291.4:c.160-188G>T MANE Select NP_004282.1:n.160-188G>T
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