Canonical Allele Identifier: CA3298268
Gene: CARTPT HGNC NCBI

Linked Data

dbSNP Id: rs147424966
ExAC: 5:71015183 T / C
gnomAD v2: 5-71015183-T-C
gnomAD v3: 5-71719356-T-C
gnomAD v4: 5-71719356-T-C
MyVariant Identifiers: chr5:g.71015183T>C (hg19) chr5:g.71719356T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719356T>C , CM000667.2:g.71719356T>C GRCh38
NC_000005.9:g.71015183T>C , CM000667.1:g.71015183T>C GRCh37
NC_000005.8:g.71050939T>C NCBI36
NG_015988.1:g.5194T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.63T>C MANE Select ENSP00000296777.4:p.Pro21=
ENST00000296777.4:c.63T>C ENSP00000296777.4:p.Pro21=
NM_004291.3:c.63T>C NP_004282.1:p.Pro21=
NM_004291.4:c.63T>C MANE Select NP_004282.1:p.Pro21=
Search 100 bp 5'
Search 100 bp 3'