Canonical Allele Identifier: CA362835550
Gene: TPMT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18139002C>T , CM000668.2:g.18139002C>T GRCh38
NC_000006.11:g.18139233C>T , CM000668.1:g.18139233C>T GRCh37
NC_000006.10:g.18247212C>T NCBI36
NG_012137.2:g.21142G>A
NG_012137.3:g.21142G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000309983.5:c.455G>A MANE Select ENSP00000312304.4:p.Arg152Lys
ENST00000309983.4:c.455G>A ENSP00000312304.4:p.Arg152Lys
NM_000367.3:c.455G>A NP_000358.1:p.Arg152Lys
XM_011514839.1:c.455G>A XP_011513141.1:p.Arg152Lys
XM_011514840.1:c.386G>A XP_011513142.1:p.Arg129Lys
NM_000367.4:c.455G>A NP_000358.1:p.Arg152Lys
NM_001346817.1:c.455G>A NP_001333746.1:p.Arg152Lys
NM_001346818.1:c.455G>A NP_001333747.1:p.Arg152Lys
NM_000367.5:c.455G>A MANE Select NP_000358.1:p.Arg152Lys