Canonical Allele Identifier: CA2578331717
Gene: CARTPT HGNC NCBI

Linked Data

gnomAD v4: 5-71719292-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719292C>G , CM000667.2:g.71719292C>G GRCh38
NC_000005.9:g.71015119C>G , CM000667.1:g.71015119C>G GRCh37
NC_000005.8:g.71050875C>G NCBI36
NG_015988.1:g.5130C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.-2C>G MANE Select ENSP00000296777.4:n.-2C>G
ENST00000296777.4:c.-2C>G ENSP00000296777.4:n.-2C>G
NM_004291.3:c.-2C>G NP_004282.1:n.-2C>G
NM_004291.4:c.-2C>G MANE Select NP_004282.1:n.-2C>G
Search 100 bp 5'
Search 100 bp 3'