Canonical Allele Identifier: CA445021320
Gene: CARTPT HGNC NCBI

Linked Data

gnomAD v4: 5-71719410-C-T
MyVariant Identifiers: chr5:g.71015237C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719410C>T , CM000667.2:g.71719410C>T GRCh38
NC_000005.9:g.71015237C>T , CM000667.1:g.71015237C>T GRCh37
NC_000005.8:g.71050993C>T NCBI36
NG_015988.1:g.5248C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.117C>T MANE Select ENSP00000296777.4:p.Asp39=
ENST00000296777.4:c.117C>T ENSP00000296777.4:p.Asp39=
NM_004291.3:c.117C>T NP_004282.1:p.Asp39=
NM_004291.4:c.117C>T MANE Select NP_004282.1:p.Asp39=