Canonical Allele Identifier: CA360104219
Gene: CARTPT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719315C>G , CM000667.2:g.71719315C>G GRCh38
NC_000005.9:g.71015142C>G , CM000667.1:g.71015142C>G GRCh37
NC_000005.8:g.71050898C>G NCBI36
NG_015988.1:g.5153C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.22C>G MANE Select ENSP00000296777.4:p.Leu8Val
ENST00000296777.4:c.22C>G ENSP00000296777.4:p.Leu8Val
NM_004291.3:c.22C>G NP_004282.1:p.Leu8Val
NM_004291.4:c.22C>G MANE Select NP_004282.1:p.Leu8Val