Canonical Allele Identifier: CA1613565779
Gene: TPMT HGNC NCBI

Linked Data

dbSNP Id: rs1784197006
gnomAD v4: 6-18143802-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18143802A>G , CM000668.2:g.18143802A>G GRCh38
NC_000006.11:g.18144033A>G , CM000668.1:g.18144033A>G GRCh37
NC_000006.10:g.18252012A>G NCBI36
NG_012137.2:g.16342T>C
NG_012137.3:g.16342T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000309983.5:c.234-74T>C MANE Select ENSP00000312304.4:n.234-74T>C
ENST00000309983.4:c.234-74T>C ENSP00000312304.4:n.234-74T>C
NM_000367.3:c.234-74T>C NP_000358.1:n.234-74T>C
XM_011514839.1:c.234-74T>C XP_011513141.1:n.234-74T>C
XM_011514840.1:c.165-74T>C XP_011513142.1:n.165-74T>C
NM_000367.4:c.234-74T>C NP_000358.1:n.234-74T>C
NM_001346817.1:c.234-74T>C NP_001333746.1:n.234-74T>C
NM_001346818.1:c.234-74T>C NP_001333747.1:n.234-74T>C
NM_000367.5:c.234-74T>C MANE Select NP_000358.1:n.234-74T>C