Canonical Allele Identifier: CA362832243
Gene: TPMT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18130715C>G , CM000668.2:g.18130715C>G GRCh38
NC_000006.11:g.18130946C>G , CM000668.1:g.18130946C>G GRCh37
NC_000006.10:g.18238925C>G NCBI36
NG_012137.2:g.29429G>C
NG_012137.3:g.29429G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000309983.5:c.691G>C MANE Select ENSP00000312304.4:p.Gly231Arg
ENST00000309983.4:c.691G>C ENSP00000312304.4:p.Gly231Arg
NM_000367.3:c.691G>C NP_000358.1:p.Gly231Arg
XM_011514839.1:c.646G>C XP_011513141.1:p.Gly216Arg
XM_011514840.1:c.622G>C XP_011513142.1:p.Gly208Arg
NM_000367.4:c.691G>C NP_000358.1:p.Gly231Arg
NM_001346817.1:c.691G>C NP_001333746.1:p.Gly231Arg
NM_001346818.1:c.646G>C NP_001333747.1:p.Gly216Arg
NM_000367.5:c.691G>C MANE Select NP_000358.1:p.Gly231Arg