Canonical Allele Identifier: CA412198057

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50526410G>T , CM000684.2:g.50526410G>T GRCh38
NC_000022.10:g.50964839G>T , CM000684.1:g.50964839G>T GRCh37
NC_000022.9:g.49311705G>T NCBI36
NG_011860.1:g.8676C>A , LRG_727:g.8676C>A
NG_016235.1:g.5030C>A
NG_021419.1:g.23195G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252029.8:c.995C>A (TYMP) MANE Select ENSP00000252029.3:p.Ala332Glu
ENST00000395680.6:c.995C>A (TYMP) ENSP00000379037.1:p.Ala332Glu
ENST00000395681.6:c.995C>A (TYMP) ENSP00000379038.1:p.Ala332Glu
ENST00000543927.6:c.-178C>A (SCO2) ENSP00000444433.1:n.-178C>A
ENST00000650719.1:c.876C>A (TYMP) ENSP00000498276.1:p.Arg292=
ENST00000651401.1:c.479C>A (TYMP) ENSP00000499115.1:p.Ala160Glu
ENST00000652401.1:c.496C>A (TYMP)
ENST00000252029.7:c.995C>A (TYMP) ENSP00000252029.3:p.Ala332Glu
ENST00000395678.7:c.995C>A (TYMP) ENSP00000379036.3:p.Ala332Glu
ENST00000395680.5:c.995C>A (TYMP) ENSP00000379037.1:p.Ala332Glu
ENST00000395681.5:c.995C>A (TYMP) ENSP00000379038.1:p.Ala332Glu
ENST00000423348.1:c.-178C>A ENSP00000403570.1:n.-178C>A
ENST00000425169.1:c.896C>A (TYMP) ENSP00000395875.1:p.Ala299Glu
ENST00000476284.1:n.1001C>A (TYMP)
ENST00000487577.5:n.1282C>A (TYMP)
ENST00000543927.5:c.-178C>A ENSP00000444433.1:n.-178C>A
NM_001113755.2:c.995C>A (TYMP) NP_001107227.1:p.Ala332Glu
NM_001113756.2:c.995C>A (TYMP) NP_001107228.1:p.Ala332Glu
NM_001169109.1:c.-178C>A (SCO2) NP_001162580.1:n.-178C>A
NM_001257988.1:c.995C>A , LRG_727t1:c.995C>A (TYMP) NP_001244917.1:p.Ala332Glu
NM_001257989.1:c.995C>A , LRG_727t2:c.995C>A (TYMP) NP_001244918.1:p.Ala332Glu
NM_001953.4:c.995C>A (TYMP) NP_001944.1:p.Ala332Glu
NM_001113755.3:c.995C>A (TYMP) NP_001107227.1:p.Ala332Glu
NM_001113756.3:c.995C>A (TYMP) NP_001107228.1:p.Ala332Glu
NM_001953.5:c.995C>A (TYMP) MANE Select NP_001944.1:p.Ala332Glu
NM_001169109.2:c.-178C>A (SCO2) NP_001162580.1:n.-178C>A