Canonical Allele Identifier: CA2677457728

Gene: TPMT

Linked Data

• gnomAD v4: 6-18139527-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18139527G>T , CM000668.2:g.18139527G>T	GRCh38
NC_000006.11:g.18139758G>T , CM000668.1:g.18139758G>T	GRCh37
NC_000006.10:g.18247737G>T	NCBI36
NG_012137.2:g.20617C>A
NG_012137.3:g.20617C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309983.5:c.419+138C>A MANE Select	ENSP00000312304.4:n.419+138C>A
ENST00000309983.4:c.419+138C>A	ENSP00000312304.4:n.419+138C>A
NM_000367.3:c.419+138C>A	NP_000358.1:n.419+138C>A
XM_011514839.1:c.419+138C>A	XP_011513141.1:n.419+138C>A
XM_011514840.1:c.350+138C>A	XP_011513142.1:n.350+138C>A
NM_000367.4:c.419+138C>A	NP_000358.1:n.419+138C>A
NM_001346817.1:c.419+138C>A	NP_001333746.1:n.419+138C>A
NM_001346818.1:c.419+138C>A	NP_001333747.1:n.419+138C>A
NM_000367.5:c.419+138C>A MANE Select	NP_000358.1:n.419+138C>A