Canonical Allele Identifier: CA560375487
Gene: CARTPT HGNC NCBI

Linked Data

dbSNP Id: rs1221596787
gnomAD v2: 5-71015089-G-T
gnomAD v3: 5-71719262-G-T
gnomAD v4: 5-71719262-G-T
COSMIC: COSN26586483
MyVariant Identifiers: chr5:g.71015089G>T (hg19) chr5:g.71719262G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719262G>T , CM000667.2:g.71719262G>T GRCh38
NC_000005.9:g.71015089G>T , CM000667.1:g.71015089G>T GRCh37
NC_000005.8:g.71050845G>T NCBI36
NG_015988.1:g.5100G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.4:c.-32G>T ENSP00000296777.4:n.-32G>T
NM_004291.3:c.-32G>T NP_004282.1:n.-32G>T
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