Canonical Allele Identifier: CA1613545786
Gene: TPMT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18130727G= , CM000668.2:g.18130727G= GRCh38
NC_000006.11:g.18130958G= , CM000668.1:g.18130958G= GRCh37
NC_000006.10:g.18238937G= NCBI36
NG_012137.2:g.29417C=
NG_012137.3:g.29417C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000309983.5:c.679C= MANE Select ENSP00000312304.4:p.His227=
ENST00000309983.4:c.679C= ENSP00000312304.4:p.His227=
NM_000367.3:c.679C= NP_000358.1:p.His227=
XM_011514839.1:c.634C= XP_011513141.1:p.His212=
XM_011514840.1:c.610C= XP_011513142.1:p.His204=
NM_000367.4:c.679C= NP_000358.1:p.His227=
NM_001346817.1:c.679C= NP_001333746.1:p.His227=
NM_001346818.1:c.634C= NP_001333747.1:p.His212=
NM_000367.5:c.679C= MANE Select NP_000358.1:p.His227=