Canonical Allele Identifier: CA3298275
Gene: CARTPT HGNC NCBI

Linked Data

ClinVar Variation Id: 718146
ClinVar RCV Id: RCV000891052
dbSNP Id: rs77879475
ExAC: 5:71015214 G / A
gnomAD v2: 5-71015214-G-A
gnomAD v3: 5-71719387-G-A
gnomAD v4: 5-71719387-G-A
MyVariant Identifiers: chr5:g.71015214G>A (hg19) chr5:g.71719387G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719387G>A , CM000667.2:g.71719387G>A GRCh38
NC_000005.9:g.71015214G>A , CM000667.1:g.71015214G>A GRCh37
NC_000005.8:g.71050970G>A NCBI36
NG_015988.1:g.5225G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.94G>A MANE Select ENSP00000296777.4:p.Glu32Lys
ENST00000296777.4:c.94G>A ENSP00000296777.4:p.Glu32Lys
NM_004291.3:c.94G>A NP_004282.1:p.Glu32Lys
NM_004291.4:c.94G>A MANE Select NP_004282.1:p.Glu32Lys
Search 100 bp 5'
Search 100 bp 3'