Canonical Allele Identifier: CA362832164
Gene: TPMT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18130697C>A , CM000668.2:g.18130697C>A GRCh38
NC_000006.11:g.18130928C>A , CM000668.1:g.18130928C>A GRCh37
NC_000006.10:g.18238907C>A NCBI36
NG_012137.2:g.29447G>T
NG_012137.3:g.29447G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000309983.5:c.709G>T MANE Select ENSP00000312304.4:p.Glu237Ter
ENST00000309983.4:c.709G>T ENSP00000312304.4:p.Glu237Ter
NM_000367.3:c.709G>T NP_000358.1:p.Glu237Ter
XM_011514839.1:c.664G>T XP_011513141.1:p.Glu222Ter
XM_011514840.1:c.640G>T XP_011513142.1:p.Glu214Ter
NM_000367.4:c.709G>T NP_000358.1:p.Glu237Ter
NM_001346817.1:c.709G>T NP_001333746.1:p.Glu237Ter
NM_001346818.1:c.664G>T NP_001333747.1:p.Glu222Ter
NM_000367.5:c.709G>T MANE Select NP_000358.1:p.Glu237Ter