Canonical Allele Identifier: CA362832142
Gene: TPMT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18130692C>A , CM000668.2:g.18130692C>A GRCh38
NC_000006.11:g.18130923C>A , CM000668.1:g.18130923C>A GRCh37
NC_000006.10:g.18238902C>A NCBI36
NG_012137.2:g.29452G>T
NG_012137.3:g.29452G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000309983.5:c.714G>T MANE Select ENSP00000312304.4:p.Lys238Asn
ENST00000309983.4:c.714G>T ENSP00000312304.4:p.Lys238Asn
NM_000367.3:c.714G>T NP_000358.1:p.Lys238Asn
XM_011514839.1:c.669G>T XP_011513141.1:p.Lys223Asn
XM_011514840.1:c.645G>T XP_011513142.1:p.Lys215Asn
NM_000367.4:c.714G>T NP_000358.1:p.Lys238Asn
NM_001346817.1:c.714G>T NP_001333746.1:p.Lys238Asn
NM_001346818.1:c.669G>T NP_001333747.1:p.Lys223Asn
NM_000367.5:c.714G>T MANE Select NP_000358.1:p.Lys238Asn