Canonical Allele Identifier: CA358449
Gene: TPMT HGNC NCBI

Linked Data

ClinVar Variation Id: 12723
ClinVar RCV Id: RCV000013560
dbSNP Id: rs1800584
gnomAD v2: 6-18131012-C-T
gnomAD v3: 6-18130781-C-T
gnomAD v4: 6-18130781-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18130781C>T , CM000668.2:g.18130781C>T GRCh38
NC_000006.11:g.18131012C>T , CM000668.1:g.18131012C>T GRCh37
NC_000006.10:g.18238991C>T NCBI36
NG_012137.2:g.29363G>A
NG_012137.3:g.29363G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000309983.5:c.626-1G>A MANE Select ENSP00000312304.4:n.626-1G>A
ENST00000309983.4:c.626-1G>A ENSP00000312304.4:n.626-1G>A
NM_000367.3:c.626-1G>A NP_000358.1:n.626-1G>A
XM_011514839.1:c.581-1G>A XP_011513141.1:n.581-1G>A
XM_011514840.1:c.557-1G>A XP_011513142.1:n.557-1G>A
NM_000367.4:c.626-1G>A NP_000358.1:n.626-1G>A
NM_001346817.1:c.626-1G>A NP_001333746.1:n.626-1G>A
NM_001346818.1:c.581-1G>A NP_001333747.1:n.581-1G>A
NM_000367.5:c.626-1G>A MANE Select NP_000358.1:n.626-1G>A