Canonical Allele Identifier: CA134966174

Gene: TPMT

Linked Data

• dbSNP Id: rs947766195
• gnomAD v3: 6-18139471-C-G
• gnomAD v4: 6-18139471-C-G
• MyVariant Identifiers: chr6:g.18139702C>G (hg19) ; chr6:g.18139471C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18139471C>G , CM000668.2:g.18139471C>G	GRCh38
NC_000006.11:g.18139702C>G , CM000668.1:g.18139702C>G	GRCh37
NC_000006.10:g.18247681C>G	NCBI36
NG_012137.2:g.20673G>C
NG_012137.3:g.20673G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000309983.5:c.419+194G>C MANE Select	ENSP00000312304.4:n.419+194G>C
ENST00000309983.4:c.419+194G>C	ENSP00000312304.4:n.419+194G>C
NM_000367.3:c.419+194G>C	NP_000358.1:n.419+194G>C
XM_011514839.1:c.419+194G>C	XP_011513141.1:n.419+194G>C
XM_011514840.1:c.350+194G>C	XP_011513142.1:n.350+194G>C
NM_000367.4:c.419+194G>C	NP_000358.1:n.419+194G>C
NM_001346817.1:c.419+194G>C	NP_001333746.1:n.419+194G>C
NM_001346818.1:c.419+194G>C	NP_001333747.1:n.419+194G>C
NM_000367.5:c.419+194G>C MANE Select	NP_000358.1:n.419+194G>C