Canonical Allele Identifier: CA362832151
Gene: TPMT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18130694T>G , CM000668.2:g.18130694T>G GRCh38
NC_000006.11:g.18130925T>G , CM000668.1:g.18130925T>G GRCh37
NC_000006.10:g.18238904T>G NCBI36
NG_012137.2:g.29450A>C
NG_012137.3:g.29450A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000309983.5:c.712A>C MANE Select ENSP00000312304.4:p.Lys238Gln
ENST00000309983.4:c.712A>C ENSP00000312304.4:p.Lys238Gln
NM_000367.3:c.712A>C NP_000358.1:p.Lys238Gln
XM_011514839.1:c.667A>C XP_011513141.1:p.Lys223Gln
XM_011514840.1:c.643A>C XP_011513142.1:p.Lys215Gln
NM_000367.4:c.712A>C NP_000358.1:p.Lys238Gln
NM_001346817.1:c.712A>C NP_001333746.1:p.Lys238Gln
NM_001346818.1:c.667A>C NP_001333747.1:p.Lys223Gln
NM_000367.5:c.712A>C MANE Select NP_000358.1:p.Lys238Gln