Canonical Allele Identifier: CA2578538829
Gene: TPMT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18138943A>C , CM000668.2:g.18138943A>C GRCh38
NC_000006.11:g.18139174A>C , CM000668.1:g.18139174A>C GRCh37
NC_000006.10:g.18247153A>C NCBI36
NG_012137.2:g.21201T>G
NG_012137.3:g.21201T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000309983.5:c.494+20T>G MANE Select ENSP00000312304.4:n.494+20T>G
ENST00000309983.4:c.494+20T>G ENSP00000312304.4:n.494+20T>G
NM_000367.3:c.494+20T>G NP_000358.1:n.494+20T>G
XM_011514839.1:c.494+20T>G XP_011513141.1:n.494+20T>G
XM_011514840.1:c.425+20T>G XP_011513142.1:n.425+20T>G
NM_000367.4:c.494+20T>G NP_000358.1:n.494+20T>G
NM_001346817.1:c.494+20T>G NP_001333746.1:n.494+20T>G
NM_001346818.1:c.494+20T>G NP_001333747.1:n.494+20T>G
NM_000367.5:c.494+20T>G MANE Select NP_000358.1:n.494+20T>G