Canonical Allele Identifier: CA360104288
Gene: CARTPT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719355C>A , CM000667.2:g.71719355C>A GRCh38
NC_000005.9:g.71015182C>A , CM000667.1:g.71015182C>A GRCh37
NC_000005.8:g.71050938C>A NCBI36
NG_015988.1:g.5193C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.62C>A MANE Select ENSP00000296777.4:p.Pro21His
ENST00000296777.4:c.62C>A ENSP00000296777.4:p.Pro21His
NM_004291.3:c.62C>A NP_004282.1:p.Pro21His
NM_004291.4:c.62C>A MANE Select NP_004282.1:p.Pro21His