Canonical Allele Identifier: CA360104391
Gene: CARTPT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719406T>G , CM000667.2:g.71719406T>G GRCh38
NC_000005.9:g.71015233T>G , CM000667.1:g.71015233T>G GRCh37
NC_000005.8:g.71050989T>G NCBI36
NG_015988.1:g.5244T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.113T>G MANE Select ENSP00000296777.4:p.Leu38Arg
ENST00000296777.4:c.113T>G ENSP00000296777.4:p.Leu38Arg
NM_004291.3:c.113T>G NP_004282.1:p.Leu38Arg
NM_004291.4:c.113T>G MANE Select NP_004282.1:p.Leu38Arg