Canonical Allele Identifier: CA134966168

Gene: TPMT

Linked Data

• dbSNP Id: rs953577486
• gnomAD v3: 6-18139451-A-C
• gnomAD v4: 6-18139451-A-C
• MyVariant Identifiers: chr6:g.18139682A>C (hg19) ; chr6:g.18139451A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18139451A>C , CM000668.2:g.18139451A>C	GRCh38
NC_000006.11:g.18139682A>C , CM000668.1:g.18139682A>C	GRCh37
NC_000006.10:g.18247661A>C	NCBI36
NG_012137.2:g.20693T>G
NG_012137.3:g.20693T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309983.5:c.419+214T>G MANE Select	ENSP00000312304.4:n.419+214T>G
ENST00000309983.4:c.419+214T>G	ENSP00000312304.4:n.419+214T>G
NM_000367.3:c.419+214T>G	NP_000358.1:n.419+214T>G
XM_011514839.1:c.419+214T>G	XP_011513141.1:n.419+214T>G
XM_011514840.1:c.350+214T>G	XP_011513142.1:n.350+214T>G
NM_000367.4:c.419+214T>G	NP_000358.1:n.419+214T>G
NM_001346817.1:c.419+214T>G	NP_001333746.1:n.419+214T>G
NM_001346818.1:c.419+214T>G	NP_001333747.1:n.419+214T>G
NM_000367.5:c.419+214T>G MANE Select	NP_000358.1:n.419+214T>G