Canonical Allele Identifier: CA2677457379
Gene: TPMT HGNC NCBI

Linked Data

gnomAD v4: 6-18130550-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18130550A>G , CM000668.2:g.18130550A>G GRCh38
NC_000006.11:g.18130781A>G , CM000668.1:g.18130781A>G GRCh37
NC_000006.10:g.18238760A>G NCBI36
NG_012137.2:g.29594T>C
NG_012137.3:g.29594T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000309983.5:c.*118T>C MANE Select ENSP00000312304.4:n.*118T>C
ENST00000309983.4:c.*118T>C ENSP00000312304.4:n.*118T>C
NM_000367.3:c.*118T>C NP_000358.1:n.*118T>C
XM_011514839.1:c.*118T>C XP_011513141.1:n.*118T>C
XM_011514840.1:c.*118T>C XP_011513142.1:n.*118T>C
NM_000367.4:c.*118T>C NP_000358.1:n.*118T>C
NM_001346817.1:c.*118T>C NP_001333746.1:n.*118T>C
NM_001346818.1:c.*118T>C NP_001333747.1:n.*118T>C
NM_000367.5:c.*118T>C MANE Select NP_000358.1:n.*118T>C
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