Canonical Allele Identifier: CA321485
Community Standard Title: NM_001953.5(TYMP):c.895C>A (p.Pro299Thr)
Gene: TYMP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50526609G>T , CM000684.2:g.50526609G>T GRCh38
NC_000022.10:g.50965038G>T , CM000684.1:g.50965038G>T GRCh37
NC_000022.9:g.49311904G>T NCBI36
NG_011860.1:g.8477C>A , LRG_727:g.8477C>A
NG_016235.1:g.4831C>A
NG_021419.1:g.23394G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001953.5:c.895C>A MANE Select NP_001944.1:p.Pro299Thr
ENST00000252029.8:c.895C>A MANE Select ENSP00000252029.3:p.Pro299Thr
NM_001113755.2:c.895C>A NP_001107227.1:p.Pro299Thr
NM_001113755.3:c.895C>A NP_001107227.1:p.Pro299Thr
NM_001113756.2:c.895C>A NP_001107228.1:p.Pro299Thr
NM_001113756.3:c.895C>A NP_001107228.1:p.Pro299Thr
NM_001257988.1:c.895C>A , LRG_727t1:c.895C>A NP_001244917.1:p.Pro299Thr
NM_001257989.1:c.895C>A , LRG_727t2:c.895C>A NP_001244918.1:p.Pro299Thr
NM_001953.4:c.895C>A NP_001944.1:p.Pro299Thr
ENST00000252029.7:c.895C>A ENSP00000252029.3:p.Pro299Thr
ENST00000395678.7:c.895C>A ENSP00000379036.3:p.Pro299Thr
ENST00000395680.5:c.895C>A ENSP00000379037.1:p.Pro299Thr
ENST00000395680.6:c.895C>A ENSP00000379037.1:p.Pro299Thr
ENST00000395681.5:c.895C>A ENSP00000379038.1:p.Pro299Thr
ENST00000395681.6:c.895C>A ENSP00000379038.1:p.Pro299Thr
ENST00000425169.1:c.796C>A ENSP00000395875.1:p.Pro266Thr
ENST00000476284.1:n.901C>A
ENST00000487577.5:n.1182C>A
ENST00000650719.1:c.776C>A ENSP00000498276.1:p.Pro259His
ENST00000651401.1:c.379C>A ENSP00000499115.1:p.Pro127Thr
ENST00000652401.1:c.396C>A