Canonical Allele Identifier: CA1613558691
Gene: TPMT HGNC NCBI

Linked Data

dbSNP Id: rs1561888797
gnomAD v4: 6-18139610-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18139610C>T , CM000668.2:g.18139610C>T GRCh38
NC_000006.11:g.18139841C>T , CM000668.1:g.18139841C>T GRCh37
NC_000006.10:g.18247820C>T NCBI36
NG_012137.2:g.20534G>A
NG_012137.3:g.20534G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000309983.5:c.419+55G>A MANE Select ENSP00000312304.4:n.419+55G>A
ENST00000309983.4:c.419+55G>A ENSP00000312304.4:n.419+55G>A
NM_000367.3:c.419+55G>A NP_000358.1:n.419+55G>A
XM_011514839.1:c.419+55G>A XP_011513141.1:n.419+55G>A
XM_011514840.1:c.350+55G>A XP_011513142.1:n.350+55G>A
NM_000367.4:c.419+55G>A NP_000358.1:n.419+55G>A
NM_001346817.1:c.419+55G>A NP_001333746.1:n.419+55G>A
NM_001346818.1:c.419+55G>A NP_001333747.1:n.419+55G>A
NM_000367.5:c.419+55G>A MANE Select NP_000358.1:n.419+55G>A
Search 100 bp 5'
Search 100 bp 3'