Canonical Allele Identifier: CA445021292
Gene: CARTPT HGNC NCBI

Linked Data

dbSNP Id: rs1748656773
gnomAD v3: 5-71719371-T-G
gnomAD v4: 5-71719371-T-G
MyVariant Identifiers: chr5:g.71015198T>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719371T>G , CM000667.2:g.71719371T>G GRCh38
NC_000005.9:g.71015198T>G , CM000667.1:g.71015198T>G GRCh37
NC_000005.8:g.71050954T>G NCBI36
NG_015988.1:g.5209T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.78T>G MANE Select ENSP00000296777.4:p.Arg26=
ENST00000296777.4:c.78T>G ENSP00000296777.4:p.Arg26=
NM_004291.3:c.78T>G NP_004282.1:p.Arg26=
NM_004291.4:c.78T>G MANE Select NP_004282.1:p.Arg26=
Search 100 bp 5'
Search 100 bp 3'