Canonical Allele Identifier: CA2677457725
Gene: TPMT HGNC NCBI

Linked Data

gnomAD v4: 6-18139524-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18139524T>A , CM000668.2:g.18139524T>A GRCh38
NC_000006.11:g.18139755T>A , CM000668.1:g.18139755T>A GRCh37
NC_000006.10:g.18247734T>A NCBI36
NG_012137.2:g.20620A>T
NG_012137.3:g.20620A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000309983.5:c.419+141A>T MANE Select ENSP00000312304.4:n.419+141A>T
ENST00000309983.4:c.419+141A>T ENSP00000312304.4:n.419+141A>T
NM_000367.3:c.419+141A>T NP_000358.1:n.419+141A>T
XM_011514839.1:c.419+141A>T XP_011513141.1:n.419+141A>T
XM_011514840.1:c.350+141A>T XP_011513142.1:n.350+141A>T
NM_000367.4:c.419+141A>T NP_000358.1:n.419+141A>T
NM_001346817.1:c.419+141A>T NP_001333746.1:n.419+141A>T
NM_001346818.1:c.419+141A>T NP_001333747.1:n.419+141A>T
NM_000367.5:c.419+141A>T MANE Select NP_000358.1:n.419+141A>T