Canonical Allele Identifier: CA134966218
Gene: TPMT HGNC NCBI

Linked Data

dbSNP Id: rs12201199
gnomAD v2: 6-18139802-A-T
gnomAD v3: 6-18139571-A-T
gnomAD v4: 6-18139571-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18139571A>T , CM000668.2:g.18139571A>T GRCh38
NC_000006.11:g.18139802A>T , CM000668.1:g.18139802A>T GRCh37
NC_000006.10:g.18247781A>T NCBI36
NG_012137.2:g.20573T>A
NG_012137.3:g.20573T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000309983.5:c.419+94T>A MANE Select ENSP00000312304.4:n.419+94T>A
ENST00000309983.4:c.419+94T>A ENSP00000312304.4:n.419+94T>A
NM_000367.3:c.419+94T>A NP_000358.1:n.419+94T>A
XM_011514839.1:c.419+94T>A XP_011513141.1:n.419+94T>A
XM_011514840.1:c.350+94T>A XP_011513142.1:n.350+94T>A
NM_000367.4:c.419+94T>A NP_000358.1:n.419+94T>A
NM_001346817.1:c.419+94T>A NP_001333746.1:n.419+94T>A
NM_001346818.1:c.419+94T>A NP_001333747.1:n.419+94T>A
NM_000367.5:c.419+94T>A MANE Select NP_000358.1:n.419+94T>A