Canonical Allele Identifier: CA412198077

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50526413G>T , CM000684.2:g.50526413G>T GRCh38
NC_000022.10:g.50964842G>T , CM000684.1:g.50964842G>T GRCh37
NC_000022.9:g.49311708G>T NCBI36
NG_011860.1:g.8673C>A , LRG_727:g.8673C>A
NG_016235.1:g.5027C>A
NG_021419.1:g.23198G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252029.8:c.992C>A (TYMP) MANE Select ENSP00000252029.3:p.Ala331Asp
ENST00000395680.6:c.992C>A (TYMP) ENSP00000379037.1:p.Ala331Asp
ENST00000395681.6:c.992C>A (TYMP) ENSP00000379038.1:p.Ala331Asp
ENST00000543927.6:c.-181C>A (SCO2) ENSP00000444433.1:n.-181C>A
ENST00000650719.1:c.873C>A (TYMP) ENSP00000498276.1:p.Gly291=
ENST00000651401.1:c.476C>A (TYMP) ENSP00000499115.1:p.Ala159Asp
ENST00000652401.1:c.493C>A (TYMP)
ENST00000252029.7:c.992C>A (TYMP) ENSP00000252029.3:p.Ala331Asp
ENST00000395678.7:c.992C>A (TYMP) ENSP00000379036.3:p.Ala331Asp
ENST00000395680.5:c.992C>A (TYMP) ENSP00000379037.1:p.Ala331Asp
ENST00000395681.5:c.992C>A (TYMP) ENSP00000379038.1:p.Ala331Asp
ENST00000423348.1:c.-181C>A ENSP00000403570.1:n.-181C>A
ENST00000425169.1:c.893C>A (TYMP) ENSP00000395875.1:p.Ala298Asp
ENST00000476284.1:n.998C>A (TYMP)
ENST00000487577.5:n.1279C>A (TYMP)
ENST00000543927.5:c.-181C>A ENSP00000444433.1:n.-181C>A
NM_001113755.2:c.992C>A (TYMP) NP_001107227.1:p.Ala331Asp
NM_001113756.2:c.992C>A (TYMP) NP_001107228.1:p.Ala331Asp
NM_001169109.1:c.-181C>A (SCO2) NP_001162580.1:n.-181C>A
NM_001257988.1:c.992C>A , LRG_727t1:c.992C>A (TYMP) NP_001244917.1:p.Ala331Asp
NM_001257989.1:c.992C>A , LRG_727t2:c.992C>A (TYMP) NP_001244918.1:p.Ala331Asp
NM_001953.4:c.992C>A (TYMP) NP_001944.1:p.Ala331Asp
NM_001113755.3:c.992C>A (TYMP) NP_001107227.1:p.Ala331Asp
NM_001113756.3:c.992C>A (TYMP) NP_001107228.1:p.Ala331Asp
NM_001953.5:c.992C>A (TYMP) MANE Select NP_001944.1:p.Ala331Asp
NM_001169109.2:c.-181C>A (SCO2) NP_001162580.1:n.-181C>A