Canonical Allele Identifier: CA1086471119

Gene: TPMT

Linked Data

• gnomAD v3: 6-18139539-T-A
• gnomAD v4: 6-18139539-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18139539T>A , CM000668.2:g.18139539T>A	GRCh38
NC_000006.11:g.18139770T>A , CM000668.1:g.18139770T>A	GRCh37
NC_000006.10:g.18247749T>A	NCBI36
NG_012137.2:g.20605A>T
NG_012137.3:g.20605A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000309983.5:c.419+126A>T MANE Select	ENSP00000312304.4:n.419+126A>T
ENST00000309983.4:c.419+126A>T	ENSP00000312304.4:n.419+126A>T
NM_000367.3:c.419+126A>T	NP_000358.1:n.419+126A>T
XM_011514839.1:c.419+126A>T	XP_011513141.1:n.419+126A>T
XM_011514840.1:c.350+126A>T	XP_011513142.1:n.350+126A>T
NM_000367.4:c.419+126A>T	NP_000358.1:n.419+126A>T
NM_001346817.1:c.419+126A>T	NP_001333746.1:n.419+126A>T
NM_001346818.1:c.419+126A>T	NP_001333747.1:n.419+126A>T
NM_000367.5:c.419+126A>T MANE Select	NP_000358.1:n.419+126A>T