Canonical Allele Identifier: CA2677457502
Gene: TPMT HGNC NCBI

Linked Data

gnomAD v4: 6-18130794-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18130794G>C , CM000668.2:g.18130794G>C GRCh38
NC_000006.11:g.18131025G>C , CM000668.1:g.18131025G>C GRCh37
NC_000006.10:g.18239004G>C NCBI36
NG_012137.2:g.29350C>G
NG_012137.3:g.29350C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000309983.5:c.626-14C>G MANE Select ENSP00000312304.4:n.626-14C>G
ENST00000309983.4:c.626-14C>G ENSP00000312304.4:n.626-14C>G
NM_000367.3:c.626-14C>G NP_000358.1:n.626-14C>G
XM_011514839.1:c.581-14C>G XP_011513141.1:n.581-14C>G
XM_011514840.1:c.557-14C>G XP_011513142.1:n.557-14C>G
NM_000367.4:c.626-14C>G NP_000358.1:n.626-14C>G
NM_001346817.1:c.626-14C>G NP_001333746.1:n.626-14C>G
NM_001346818.1:c.581-14C>G NP_001333747.1:n.581-14C>G
NM_000367.5:c.626-14C>G MANE Select NP_000358.1:n.626-14C>G