Canonical Allele Identifier: CA822712309
Gene: TPMT HGNC NCBI

Linked Data

dbSNP Id: rs1380628707
gnomAD v3: 6-18130657-C-T
gnomAD v4: 6-18130657-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18130657C>T , CM000668.2:g.18130657C>T GRCh38
NC_000006.11:g.18130888C>T , CM000668.1:g.18130888C>T GRCh37
NC_000006.10:g.18238867C>T NCBI36
NG_012137.2:g.29487G>A
NG_012137.3:g.29487G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000309983.5:c.*11G>A MANE Select ENSP00000312304.4:n.*11G>A
ENST00000309983.4:c.*11G>A ENSP00000312304.4:n.*11G>A
NM_000367.3:c.*11G>A NP_000358.1:n.*11G>A
XM_011514839.1:c.*11G>A XP_011513141.1:n.*11G>A
XM_011514840.1:c.*11G>A XP_011513142.1:n.*11G>A
NM_000367.4:c.*11G>A NP_000358.1:n.*11G>A
NM_001346817.1:c.*11G>A NP_001333746.1:n.*11G>A
NM_001346818.1:c.*11G>A NP_001333747.1:n.*11G>A
NM_000367.5:c.*11G>A MANE Select NP_000358.1:n.*11G>A