Canonical Allele Identifier: CA3298274
Gene: CARTPT HGNC NCBI

Linked Data

ClinVar Variation Id: 3137470
ClinVar RCV Id: RCV004427302
dbSNP Id: rs745647871
ExAC: 5:71015211 G / T
gnomAD v2: 5-71015211-G-T
gnomAD v4: 5-71719384-G-T
COSMIC: COSM6321195
MyVariant Identifiers: chr5:g.71015211G>T (hg19) chr5:g.71719384G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719384G>T , CM000667.2:g.71719384G>T GRCh38
NC_000005.9:g.71015211G>T , CM000667.1:g.71015211G>T GRCh37
NC_000005.8:g.71050967G>T NCBI36
NG_015988.1:g.5222G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.91G>T MANE Select ENSP00000296777.4:p.Ala31Ser
ENST00000296777.4:c.91G>T ENSP00000296777.4:p.Ala31Ser
NM_004291.3:c.91G>T NP_004282.1:p.Ala31Ser
NM_004291.4:c.91G>T MANE Select NP_004282.1:p.Ala31Ser
Search 100 bp 5'
Search 100 bp 3'