Canonical Allele Identifier: CA120740089
Gene: CARTPT HGNC NCBI

Linked Data

dbSNP Id: rs112352933
gnomAD v3: 5-71719683-C-A
gnomAD v4: 5-71719683-C-A
MyVariant Identifiers: chr5:g.71015510C>A (hg19) chr5:g.71719683C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719683C>A , CM000667.2:g.71719683C>A GRCh38
NC_000005.9:g.71015510C>A , CM000667.1:g.71015510C>A GRCh37
NC_000005.8:g.71051266C>A NCBI36
NG_015988.1:g.5521C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.160-197C>A MANE Select ENSP00000296777.4:n.160-197C>A
ENST00000296777.4:c.160-197C>A ENSP00000296777.4:n.160-197C>A
ENST00000513096.1:n.105C>A
NM_004291.3:c.160-197C>A NP_004282.1:n.160-197C>A
NM_004291.4:c.160-197C>A MANE Select NP_004282.1:n.160-197C>A
Search 100 bp 5'
Search 100 bp 3'