Canonical Allele Identifier: CA134966156

Gene: TPMT

Linked Data

• dbSNP Id: rs11965116
• gnomAD v2: 6-18139647-T-G
• gnomAD v3: 6-18139416-T-G
• gnomAD v4: 6-18139416-T-G
• MyVariant Identifiers: chr6:g.18139647T>G (hg19) ; chr6:g.18139416T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18139416T>G , CM000668.2:g.18139416T>G	GRCh38
NC_000006.11:g.18139647T>G , CM000668.1:g.18139647T>G	GRCh37
NC_000006.10:g.18247626T>G	NCBI36
NG_012137.2:g.20728A>C
NG_012137.3:g.20728A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000309983.5:c.419+249A>C MANE Select	ENSP00000312304.4:n.419+249A>C
ENST00000309983.4:c.419+249A>C	ENSP00000312304.4:n.419+249A>C
NM_000367.3:c.419+249A>C	NP_000358.1:n.419+249A>C
XM_011514839.1:c.419+249A>C	XP_011513141.1:n.419+249A>C
XM_011514840.1:c.350+249A>C	XP_011513142.1:n.350+249A>C
NM_000367.4:c.419+249A>C	NP_000358.1:n.419+249A>C
NM_001346817.1:c.419+249A>C	NP_001333746.1:n.419+249A>C
NM_001346818.1:c.419+249A>C	NP_001333747.1:n.419+249A>C
NM_000367.5:c.419+249A>C MANE Select	NP_000358.1:n.419+249A>C