Canonical Allele Identifier: CA1077369124
Gene: CARTPT HGNC NCBI

Linked Data

dbSNP Id: rs957169758
gnomAD v3: 5-71719560-G-T
gnomAD v4: 5-71719560-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719560G>T , CM000667.2:g.71719560G>T GRCh38
NC_000005.9:g.71015387G>T , CM000667.1:g.71015387G>T GRCh37
NC_000005.8:g.71051143G>T NCBI36
NG_015988.1:g.5398G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.159+108G>T MANE Select ENSP00000296777.4:n.159+108G>T
ENST00000296777.4:c.159+108G>T ENSP00000296777.4:n.159+108G>T
NM_004291.3:c.159+108G>T NP_004282.1:n.159+108G>T
NM_004291.4:c.159+108G>T MANE Select NP_004282.1:n.159+108G>T
Search 100 bp 5'
Search 100 bp 3'