Canonical Allele Identifier: CA2677457758
Gene: TPMT HGNC NCBI

Linked Data

gnomAD v4: 6-18139559-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18139559A>G , CM000668.2:g.18139559A>G GRCh38
NC_000006.11:g.18139790A>G , CM000668.1:g.18139790A>G GRCh37
NC_000006.10:g.18247769A>G NCBI36
NG_012137.2:g.20585T>C
NG_012137.3:g.20585T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000309983.5:c.419+106T>C MANE Select ENSP00000312304.4:n.419+106T>C
ENST00000309983.4:c.419+106T>C ENSP00000312304.4:n.419+106T>C
NM_000367.3:c.419+106T>C NP_000358.1:n.419+106T>C
XM_011514839.1:c.419+106T>C XP_011513141.1:n.419+106T>C
XM_011514840.1:c.350+106T>C XP_011513142.1:n.350+106T>C
NM_000367.4:c.419+106T>C NP_000358.1:n.419+106T>C
NM_001346817.1:c.419+106T>C NP_001333746.1:n.419+106T>C
NM_001346818.1:c.419+106T>C NP_001333747.1:n.419+106T>C
NM_000367.5:c.419+106T>C MANE Select NP_000358.1:n.419+106T>C