Canonical Allele Identifier: CA362835519
Gene: TPMT HGNC NCBI

Linked Data

dbSNP Id: rs1800460
gnomAD v4: 6-18138997-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18138997C>A , CM000668.2:g.18138997C>A GRCh38
NC_000006.11:g.18139228C>A , CM000668.1:g.18139228C>A GRCh37
NC_000006.10:g.18247207C>A NCBI36
NG_012137.2:g.21147G>T
NG_012137.3:g.21147G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000309983.5:c.460G>T MANE Select ENSP00000312304.4:p.Ala154Ser
ENST00000309983.4:c.460G>T ENSP00000312304.4:p.Ala154Ser
NM_000367.3:c.460G>T NP_000358.1:p.Ala154Ser
XM_011514839.1:c.460G>T XP_011513141.1:p.Ala154Ser
XM_011514840.1:c.391G>T XP_011513142.1:p.Ala131Ser
NM_000367.4:c.460G>T NP_000358.1:p.Ala154Ser
NM_001346817.1:c.460G>T NP_001333746.1:p.Ala154Ser
NM_001346818.1:c.460G>T NP_001333747.1:p.Ala154Ser
NM_000367.5:c.460G>T MANE Select NP_000358.1:p.Ala154Ser