Canonical Allele Identifier: CA560375486
Gene: CARTPT HGNC NCBI

Linked Data

dbSNP Id: rs1163556097
gnomAD v2: 5-71015087-G-A
gnomAD v3: 5-71719260-G-A
gnomAD v4: 5-71719260-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719260G>A , CM000667.2:g.71719260G>A GRCh38
NC_000005.9:g.71015087G>A , CM000667.1:g.71015087G>A GRCh37
NC_000005.8:g.71050843G>A NCBI36
NG_015988.1:g.5098G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.4:c.-34G>A ENSP00000296777.4:n.-34G>A
NM_004291.3:c.-34G>A NP_004282.1:n.-34G>A