Canonical Allele Identifier: CA134966158

Gene: TPMT

Linked Data

• dbSNP Id: rs193284611
• gnomAD v3: 6-18139420-T-A
• gnomAD v4: 6-18139420-T-A
• MyVariant Identifiers: chr6:g.18139651T>A (hg19) ; chr6:g.18139420T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18139420T>A , CM000668.2:g.18139420T>A	GRCh38
NC_000006.11:g.18139651T>A , CM000668.1:g.18139651T>A	GRCh37
NC_000006.10:g.18247630T>A	NCBI36
NG_012137.2:g.20724A>T
NG_012137.3:g.20724A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000309983.5:c.419+245A>T MANE Select	ENSP00000312304.4:n.419+245A>T
ENST00000309983.4:c.419+245A>T	ENSP00000312304.4:n.419+245A>T
NM_000367.3:c.419+245A>T	NP_000358.1:n.419+245A>T
XM_011514839.1:c.419+245A>T	XP_011513141.1:n.419+245A>T
XM_011514840.1:c.350+245A>T	XP_011513142.1:n.350+245A>T
NM_000367.4:c.419+245A>T	NP_000358.1:n.419+245A>T
NM_001346817.1:c.419+245A>T	NP_001333746.1:n.419+245A>T
NM_001346818.1:c.419+245A>T	NP_001333747.1:n.419+245A>T
NM_000367.5:c.419+245A>T MANE Select	NP_000358.1:n.419+245A>T