Canonical Allele Identifier: CA2578538775
Gene: TPMT HGNC NCBI

Linked Data

gnomAD v4: 6-18130603-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18130603G>T , CM000668.2:g.18130603G>T GRCh38
NC_000006.11:g.18130834G>T , CM000668.1:g.18130834G>T GRCh37
NC_000006.10:g.18238813G>T NCBI36
NG_012137.2:g.29541C>A
NG_012137.3:g.29541C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000309983.5:c.*65C>A MANE Select ENSP00000312304.4:n.*65C>A
ENST00000309983.4:c.*65C>A ENSP00000312304.4:n.*65C>A
NM_000367.3:c.*65C>A NP_000358.1:n.*65C>A
XM_011514839.1:c.*65C>A XP_011513141.1:n.*65C>A
XM_011514840.1:c.*65C>A XP_011513142.1:n.*65C>A
NM_000367.4:c.*65C>A NP_000358.1:n.*65C>A
NM_001346817.1:c.*65C>A NP_001333746.1:n.*65C>A
NM_001346818.1:c.*65C>A NP_001333747.1:n.*65C>A
NM_000367.5:c.*65C>A MANE Select NP_000358.1:n.*65C>A
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