Canonical Allele Identifier: CA1613558617
Gene: TPMT HGNC NCBI

Linked Data

dbSNP Id: rs1784102652
gnomAD v4: 6-18139525-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18139525C>G , CM000668.2:g.18139525C>G GRCh38
NC_000006.11:g.18139756C>G , CM000668.1:g.18139756C>G GRCh37
NC_000006.10:g.18247735C>G NCBI36
NG_012137.2:g.20619G>C
NG_012137.3:g.20619G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000309983.5:c.419+140G>C MANE Select ENSP00000312304.4:n.419+140G>C
ENST00000309983.4:c.419+140G>C ENSP00000312304.4:n.419+140G>C
NM_000367.3:c.419+140G>C NP_000358.1:n.419+140G>C
XM_011514839.1:c.419+140G>C XP_011513141.1:n.419+140G>C
XM_011514840.1:c.350+140G>C XP_011513142.1:n.350+140G>C
NM_000367.4:c.419+140G>C NP_000358.1:n.419+140G>C
NM_001346817.1:c.419+140G>C NP_001333746.1:n.419+140G>C
NM_001346818.1:c.419+140G>C NP_001333747.1:n.419+140G>C
NM_000367.5:c.419+140G>C MANE Select NP_000358.1:n.419+140G>C