Canonical Allele Identifier: CA2677457367
Gene: TPMT HGNC NCBI

Linked Data

gnomAD v4: 6-18130537-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18130537A>G , CM000668.2:g.18130537A>G GRCh38
NC_000006.11:g.18130768A>G , CM000668.1:g.18130768A>G GRCh37
NC_000006.10:g.18238747A>G NCBI36
NG_012137.2:g.29607T>C
NG_012137.3:g.29607T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000309983.5:c.*131T>C MANE Select ENSP00000312304.4:n.*131T>C
ENST00000309983.4:c.*131T>C ENSP00000312304.4:n.*131T>C
NM_000367.3:c.*131T>C NP_000358.1:n.*131T>C
XM_011514839.1:c.*131T>C XP_011513141.1:n.*131T>C
XM_011514840.1:c.*131T>C XP_011513142.1:n.*131T>C
NM_000367.4:c.*131T>C NP_000358.1:n.*131T>C
NM_001346817.1:c.*131T>C NP_001333746.1:n.*131T>C
NM_001346818.1:c.*131T>C NP_001333747.1:n.*131T>C
NM_000367.5:c.*131T>C MANE Select NP_000358.1:n.*131T>C
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