Canonical Allele Identifier: CA134966212

Gene: TPMT

Linked Data

• dbSNP Id: rs893813398
• gnomAD v3: 6-18139554-T-C
• gnomAD v4: 6-18139554-T-C
• MyVariant Identifiers: chr6:g.18139785T>C (hg19) ; chr6:g.18139554T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18139554T>C , CM000668.2:g.18139554T>C	GRCh38
NC_000006.11:g.18139785T>C , CM000668.1:g.18139785T>C	GRCh37
NC_000006.10:g.18247764T>C	NCBI36
NG_012137.2:g.20590A>G
NG_012137.3:g.20590A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309983.5:c.419+111A>G MANE Select	ENSP00000312304.4:n.419+111A>G
ENST00000309983.4:c.419+111A>G	ENSP00000312304.4:n.419+111A>G
NM_000367.3:c.419+111A>G	NP_000358.1:n.419+111A>G
XM_011514839.1:c.419+111A>G	XP_011513141.1:n.419+111A>G
XM_011514840.1:c.350+111A>G	XP_011513142.1:n.350+111A>G
NM_000367.4:c.419+111A>G	NP_000358.1:n.419+111A>G
NM_001346817.1:c.419+111A>G	NP_001333746.1:n.419+111A>G
NM_001346818.1:c.419+111A>G	NP_001333747.1:n.419+111A>G
NM_000367.5:c.419+111A>G MANE Select	NP_000358.1:n.419+111A>G