Canonical Allele Identifier: CA2674169212
Gene: CARTPT HGNC NCBI

Linked Data

gnomAD v4: 5-71719244-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719244T>C , CM000667.2:g.71719244T>C GRCh38
NC_000005.9:g.71015071T>C , CM000667.1:g.71015071T>C GRCh37
NC_000005.8:g.71050827T>C NCBI36
NG_015988.1:g.5082T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.4:c.-50T>C ENSP00000296777.4:n.-50T>C
NM_004291.3:c.-50T>C NP_004282.1:n.-50T>C