Canonical Allele Identifier: CA360104227
Gene: CARTPT HGNC NCBI

Linked Data

gnomAD v4: 5-71719319-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719319T>C , CM000667.2:g.71719319T>C GRCh38
NC_000005.9:g.71015146T>C , CM000667.1:g.71015146T>C GRCh37
NC_000005.8:g.71050902T>C NCBI36
NG_015988.1:g.5157T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.26T>C MANE Select ENSP00000296777.4:p.Leu9Pro
ENST00000296777.4:c.26T>C ENSP00000296777.4:p.Leu9Pro
NM_004291.3:c.26T>C NP_004282.1:p.Leu9Pro
NM_004291.4:c.26T>C MANE Select NP_004282.1:p.Leu9Pro