Canonical Allele Identifier: CA360104214
Gene: CARTPT HGNC NCBI

Linked Data

gnomAD v4: 5-71719313-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719313G>T , CM000667.2:g.71719313G>T GRCh38
NC_000005.9:g.71015140G>T , CM000667.1:g.71015140G>T GRCh37
NC_000005.8:g.71050896G>T NCBI36
NG_015988.1:g.5151G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.20G>T MANE Select ENSP00000296777.4:p.Arg7Met
ENST00000296777.4:c.20G>T ENSP00000296777.4:p.Arg7Met
NM_004291.3:c.20G>T NP_004282.1:p.Arg7Met
NM_004291.4:c.20G>T MANE Select NP_004282.1:p.Arg7Met