Canonical Allele Identifier: CA1077368990
Gene: CARTPT HGNC NCBI

Linked Data

dbSNP Id: rs746828689
gnomAD v3: 5-71719274-C-A
gnomAD v4: 5-71719274-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719274C>A , CM000667.2:g.71719274C>A GRCh38
NC_000005.9:g.71015101C>A , CM000667.1:g.71015101C>A GRCh37
NC_000005.8:g.71050857C>A NCBI36
NG_015988.1:g.5112C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.4:c.-20C>A ENSP00000296777.4:n.-20C>A
NM_004291.3:c.-20C>A NP_004282.1:n.-20C>A
Search 100 bp 5'
Search 100 bp 3'