Canonical Allele Identifier: CA1086470969
Gene: TPMT HGNC NCBI

Linked Data

dbSNP Id: rs1784094365
gnomAD v3: 6-18139109-G-T
gnomAD v4: 6-18139109-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18139109G>T , CM000668.2:g.18139109G>T GRCh38
NC_000006.11:g.18139340G>T , CM000668.1:g.18139340G>T GRCh37
NC_000006.10:g.18247319G>T NCBI36
NG_012137.2:g.21035C>A
NG_012137.3:g.21035C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000309983.5:c.420-72C>A MANE Select ENSP00000312304.4:n.420-72C>A
ENST00000309983.4:c.420-72C>A ENSP00000312304.4:n.420-72C>A
NM_000367.3:c.420-72C>A NP_000358.1:n.420-72C>A
XM_011514839.1:c.420-72C>A XP_011513141.1:n.420-72C>A
XM_011514840.1:c.351-72C>A XP_011513142.1:n.351-72C>A
NM_000367.4:c.420-72C>A NP_000358.1:n.420-72C>A
NM_001346817.1:c.420-72C>A NP_001333746.1:n.420-72C>A
NM_001346818.1:c.420-72C>A NP_001333747.1:n.420-72C>A
NM_000367.5:c.420-72C>A MANE Select NP_000358.1:n.420-72C>A