Canonical Allele Identifier: CA565555001
Gene: TPMT HGNC NCBI

Linked Data

dbSNP Id: rs1315931093
gnomAD v2: 6-18130872-T-C
gnomAD v3: 6-18130641-T-C
gnomAD v4: 6-18130641-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18130641T>C , CM000668.2:g.18130641T>C GRCh38
NC_000006.11:g.18130872T>C , CM000668.1:g.18130872T>C GRCh37
NC_000006.10:g.18238851T>C NCBI36
NG_012137.2:g.29503A>G
NG_012137.3:g.29503A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000309983.5:c.*27A>G MANE Select ENSP00000312304.4:n.*27A>G
ENST00000309983.4:c.*27A>G ENSP00000312304.4:n.*27A>G
NM_000367.3:c.*27A>G NP_000358.1:n.*27A>G
XM_011514839.1:c.*27A>G XP_011513141.1:n.*27A>G
XM_011514840.1:c.*27A>G XP_011513142.1:n.*27A>G
NM_000367.4:c.*27A>G NP_000358.1:n.*27A>G
NM_001346817.1:c.*27A>G NP_001333746.1:n.*27A>G
NM_001346818.1:c.*27A>G NP_001333747.1:n.*27A>G
NM_000367.5:c.*27A>G MANE Select NP_000358.1:n.*27A>G