Canonical Allele Identifier: CA1613565780
Gene: TPMT HGNC NCBI

Linked Data

dbSNP Id: rs1784197081
gnomAD v4: 6-18143803-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18143803T>C , CM000668.2:g.18143803T>C GRCh38
NC_000006.11:g.18144034T>C , CM000668.1:g.18144034T>C GRCh37
NC_000006.10:g.18252013T>C NCBI36
NG_012137.2:g.16341A>G
NG_012137.3:g.16341A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000309983.5:c.234-75A>G MANE Select ENSP00000312304.4:n.234-75A>G
ENST00000309983.4:c.234-75A>G ENSP00000312304.4:n.234-75A>G
NM_000367.3:c.234-75A>G NP_000358.1:n.234-75A>G
XM_011514839.1:c.234-75A>G XP_011513141.1:n.234-75A>G
XM_011514840.1:c.165-75A>G XP_011513142.1:n.165-75A>G
NM_000367.4:c.234-75A>G NP_000358.1:n.234-75A>G
NM_001346817.1:c.234-75A>G NP_001333746.1:n.234-75A>G
NM_001346818.1:c.234-75A>G NP_001333747.1:n.234-75A>G
NM_000367.5:c.234-75A>G MANE Select NP_000358.1:n.234-75A>G
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