Canonical Allele Identifier: CA362832214
Gene: TPMT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18130707G>T , CM000668.2:g.18130707G>T GRCh38
NC_000006.11:g.18130938G>T , CM000668.1:g.18130938G>T GRCh37
NC_000006.10:g.18238917G>T NCBI36
NG_012137.2:g.29437C>A
NG_012137.3:g.29437C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000309983.5:c.699C>A MANE Select ENSP00000312304.4:p.Asp233Glu
ENST00000309983.4:c.699C>A ENSP00000312304.4:p.Asp233Glu
NM_000367.3:c.699C>A NP_000358.1:p.Asp233Glu
XM_011514839.1:c.654C>A XP_011513141.1:p.Asp218Glu
XM_011514840.1:c.630C>A XP_011513142.1:p.Asp210Glu
NM_000367.4:c.699C>A NP_000358.1:p.Asp233Glu
NM_001346817.1:c.699C>A NP_001333746.1:p.Asp233Glu
NM_001346818.1:c.654C>A NP_001333747.1:p.Asp218Glu
NM_000367.5:c.699C>A MANE Select NP_000358.1:p.Asp233Glu