Canonical Allele Identifier: CA3650240
Gene: TPMT HGNC NCBI

Linked Data

ClinVar Variation Id: 3181551
ClinVar RCV Id: RCV004470898
dbSNP Id: rs755583154
ExAC: 6:18143899 T / G
gnomAD v2: 6-18143899-T-G
gnomAD v4: 6-18143668-T-G
MyVariant Identifiers: chr6:g.18143899T>G (hg19) chr6:g.18143668T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18143668T>G , CM000668.2:g.18143668T>G GRCh38
NC_000006.11:g.18143899T>G , CM000668.1:g.18143899T>G GRCh37
NC_000006.10:g.18251878T>G NCBI36
NG_012137.2:g.16476A>C
NG_012137.3:g.16476A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000309983.5:c.294A>C MANE Select ENSP00000312304.4:p.Glu98Asp
ENST00000309983.4:c.294A>C ENSP00000312304.4:p.Glu98Asp
NM_000367.3:c.294A>C NP_000358.1:p.Glu98Asp
XM_011514839.1:c.294A>C XP_011513141.1:p.Glu98Asp
XM_011514840.1:c.225A>C XP_011513142.1:p.Glu75Asp
NM_000367.4:c.294A>C NP_000358.1:p.Glu98Asp
NM_001346817.1:c.294A>C NP_001333746.1:p.Glu98Asp
NM_001346818.1:c.294A>C NP_001333747.1:p.Glu98Asp
NM_000367.5:c.294A>C MANE Select NP_000358.1:p.Glu98Asp
Search 100 bp 5'
Search 100 bp 3'