Canonical Allele Identifier: CA1086467167
Gene: TPMT HGNC NCBI

Linked Data

dbSNP Id: rs1783920415
gnomAD v3: 6-18130496-A-T
gnomAD v4: 6-18130496-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18130496A>T , CM000668.2:g.18130496A>T GRCh38
NC_000006.11:g.18130727A>T , CM000668.1:g.18130727A>T GRCh37
NC_000006.10:g.18238706A>T NCBI36
NG_012137.2:g.29648T>A
NG_012137.3:g.29648T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000309983.5:c.*172T>A MANE Select ENSP00000312304.4:n.*172T>A
ENST00000309983.4:c.*172T>A ENSP00000312304.4:n.*172T>A
NM_000367.3:c.*172T>A NP_000358.1:n.*172T>A
XM_011514839.1:c.*172T>A XP_011513141.1:n.*172T>A
XM_011514840.1:c.*172T>A XP_011513142.1:n.*172T>A
NM_000367.4:c.*172T>A NP_000358.1:n.*172T>A
NM_001346817.1:c.*172T>A NP_001333746.1:n.*172T>A
NM_001346818.1:c.*172T>A NP_001333747.1:n.*172T>A
NM_000367.5:c.*172T>A MANE Select NP_000358.1:n.*172T>A
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