Canonical Allele Identifier: CA362835647
Gene: TPMT HGNC NCBI

Linked Data

gnomAD v4: 6-18139017-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18139017T>C , CM000668.2:g.18139017T>C GRCh38
NC_000006.11:g.18139248T>C , CM000668.1:g.18139248T>C GRCh37
NC_000006.10:g.18247227T>C NCBI36
NG_012137.2:g.21127A>G
NG_012137.3:g.21127A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000309983.5:c.440A>G MANE Select ENSP00000312304.4:p.Asp147Gly
ENST00000309983.4:c.440A>G ENSP00000312304.4:p.Asp147Gly
NM_000367.3:c.440A>G NP_000358.1:p.Asp147Gly
XM_011514839.1:c.440A>G XP_011513141.1:p.Asp147Gly
XM_011514840.1:c.371A>G XP_011513142.1:p.Asp124Gly
NM_000367.4:c.440A>G NP_000358.1:p.Asp147Gly
NM_001346817.1:c.440A>G NP_001333746.1:p.Asp147Gly
NM_001346818.1:c.440A>G NP_001333747.1:p.Asp147Gly
NM_000367.5:c.440A>G MANE Select NP_000358.1:p.Asp147Gly