Canonical Allele Identifier: CA2677457449
Gene: TPMT HGNC NCBI

Linked Data

gnomAD v4: 6-18138847-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18138847A>T , CM000668.2:g.18138847A>T GRCh38
NC_000006.11:g.18139078A>T , CM000668.1:g.18139078A>T GRCh37
NC_000006.10:g.18247057A>T NCBI36
NG_012137.2:g.21297T>A
NG_012137.3:g.21297T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000309983.5:c.494+116T>A MANE Select ENSP00000312304.4:n.494+116T>A
ENST00000309983.4:c.494+116T>A ENSP00000312304.4:n.494+116T>A
NM_000367.3:c.494+116T>A NP_000358.1:n.494+116T>A
XM_011514839.1:c.494+116T>A XP_011513141.1:n.494+116T>A
XM_011514840.1:c.425+116T>A XP_011513142.1:n.425+116T>A
NM_000367.4:c.494+116T>A NP_000358.1:n.494+116T>A
NM_001346817.1:c.494+116T>A NP_001333746.1:n.494+116T>A
NM_001346818.1:c.494+116T>A NP_001333747.1:n.494+116T>A
NM_000367.5:c.494+116T>A MANE Select NP_000358.1:n.494+116T>A
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