Canonical Allele Identifier: CA560375489
Gene: CARTPT HGNC NCBI

Linked Data

dbSNP Id: rs1263892792
gnomAD v2: 5-71015103-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719276A>G , CM000667.2:g.71719276A>G GRCh38
NC_000005.9:g.71015103A>G , CM000667.1:g.71015103A>G GRCh37
NC_000005.8:g.71050859A>G NCBI36
NG_015988.1:g.5114A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.-18A>G MANE Select ENSP00000296777.4:n.-18A>G
ENST00000296777.4:c.-18A>G ENSP00000296777.4:n.-18A>G
NM_004291.3:c.-18A>G NP_004282.1:n.-18A>G
NM_004291.4:c.-18A>G MANE Select NP_004282.1:n.-18A>G