Canonical Allele Identifier: CA134966045
Gene: TPMT HGNC NCBI

Linked Data

dbSNP Id: rs941769105
gnomAD v4: 6-18138935-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18138935G>A , CM000668.2:g.18138935G>A GRCh38
NC_000006.11:g.18139166G>A , CM000668.1:g.18139166G>A GRCh37
NC_000006.10:g.18247145G>A NCBI36
NG_012137.2:g.21209C>T
NG_012137.3:g.21209C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000309983.5:c.494+28C>T MANE Select ENSP00000312304.4:n.494+28C>T
ENST00000309983.4:c.494+28C>T ENSP00000312304.4:n.494+28C>T
NM_000367.3:c.494+28C>T NP_000358.1:n.494+28C>T
XM_011514839.1:c.494+28C>T XP_011513141.1:n.494+28C>T
XM_011514840.1:c.425+28C>T XP_011513142.1:n.425+28C>T
NM_000367.4:c.494+28C>T NP_000358.1:n.494+28C>T
NM_001346817.1:c.494+28C>T NP_001333746.1:n.494+28C>T
NM_001346818.1:c.494+28C>T NP_001333747.1:n.494+28C>T
NM_000367.5:c.494+28C>T MANE Select NP_000358.1:n.494+28C>T