Canonical Allele Identifier: CA1613558621
Gene: TPMT HGNC NCBI

Linked Data

dbSNP Id: rs1784102714
gnomAD v4: 6-18139529-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18139529A>G , CM000668.2:g.18139529A>G GRCh38
NC_000006.11:g.18139760A>G , CM000668.1:g.18139760A>G GRCh37
NC_000006.10:g.18247739A>G NCBI36
NG_012137.2:g.20615T>C
NG_012137.3:g.20615T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000309983.5:c.419+136T>C MANE Select ENSP00000312304.4:n.419+136T>C
ENST00000309983.4:c.419+136T>C ENSP00000312304.4:n.419+136T>C
NM_000367.3:c.419+136T>C NP_000358.1:n.419+136T>C
XM_011514839.1:c.419+136T>C XP_011513141.1:n.419+136T>C
XM_011514840.1:c.350+136T>C XP_011513142.1:n.350+136T>C
NM_000367.4:c.419+136T>C NP_000358.1:n.419+136T>C
NM_001346817.1:c.419+136T>C NP_001333746.1:n.419+136T>C
NM_001346818.1:c.419+136T>C NP_001333747.1:n.419+136T>C
NM_000367.5:c.419+136T>C MANE Select NP_000358.1:n.419+136T>C
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