Canonical Allele Identifier: CA565556138

Gene: TPMT

Linked Data

• dbSNP Id: rs1204151250
• gnomAD v2: 6-18139646-C-T
• gnomAD v3: 6-18139415-C-T
• gnomAD v4: 6-18139415-C-T
• MyVariant Identifiers: chr6:g.18139646C>T (hg19) ; chr6:g.18139415C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18139415C>T , CM000668.2:g.18139415C>T	GRCh38
NC_000006.11:g.18139646C>T , CM000668.1:g.18139646C>T	GRCh37
NC_000006.10:g.18247625C>T	NCBI36
NG_012137.2:g.20729G>A
NG_012137.3:g.20729G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309983.5:c.419+250G>A MANE Select	ENSP00000312304.4:n.419+250G>A
ENST00000309983.4:c.419+250G>A	ENSP00000312304.4:n.419+250G>A
NM_000367.3:c.419+250G>A	NP_000358.1:n.419+250G>A
XM_011514839.1:c.419+250G>A	XP_011513141.1:n.419+250G>A
XM_011514840.1:c.350+250G>A	XP_011513142.1:n.350+250G>A
NM_000367.4:c.419+250G>A	NP_000358.1:n.419+250G>A
NM_001346817.1:c.419+250G>A	NP_001333746.1:n.419+250G>A
NM_001346818.1:c.419+250G>A	NP_001333747.1:n.419+250G>A
NM_000367.5:c.419+250G>A MANE Select	NP_000358.1:n.419+250G>A