Canonical Allele Identifier: CA325560806

Linked Data

dbSNP Id: rs980387340

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50526397G>A , CM000684.2:g.50526397G>A GRCh38
NC_000022.10:g.50964826G>A , CM000684.1:g.50964826G>A GRCh37
NC_000022.9:g.49311692G>A NCBI36
NG_011860.1:g.8689C>T , LRG_727:g.8689C>T
NG_016235.1:g.5043C>T
NG_021419.1:g.23182G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252029.8:c.1008C>T (TYMP) MANE Select ENSP00000252029.3:p.Asp336=
ENST00000395680.6:c.1008C>T (TYMP) ENSP00000379037.1:p.Asp336=
ENST00000395681.6:c.1008C>T (TYMP) ENSP00000379038.1:p.Asp336=
ENST00000543927.6:c.-165C>T (SCO2) ENSP00000444433.1:n.-165C>T
ENST00000650719.1:c.889C>T (TYMP) ENSP00000498276.1:p.Arg297Trp
ENST00000651401.1:c.492C>T (TYMP) ENSP00000499115.1:p.Asp164=
ENST00000652401.1:c.509C>T (TYMP)
ENST00000252029.7:c.1008C>T (TYMP) ENSP00000252029.3:p.Asp336=
ENST00000395678.7:c.1008C>T (TYMP) ENSP00000379036.3:p.Asp336=
ENST00000395680.5:c.1008C>T (TYMP) ENSP00000379037.1:p.Asp336=
ENST00000395681.5:c.1008C>T (TYMP) ENSP00000379038.1:p.Asp336=
ENST00000423348.1:c.-165C>T ENSP00000403570.1:n.-165C>T
ENST00000425169.1:c.909C>T (TYMP) ENSP00000395875.1:p.Asp303=
ENST00000476284.1:n.1014C>T (TYMP)
ENST00000487577.5:n.1295C>T (TYMP)
ENST00000543927.5:c.-165C>T ENSP00000444433.1:n.-165C>T
NM_001113755.2:c.1008C>T (TYMP) NP_001107227.1:p.Asp336=
NM_001113756.2:c.1008C>T (TYMP) NP_001107228.1:p.Asp336=
NM_001169109.1:c.-165C>T (SCO2) NP_001162580.1:n.-165C>T
NM_001257988.1:c.1008C>T , LRG_727t1:c.1008C>T (TYMP) NP_001244917.1:p.Asp336=
NM_001257989.1:c.1008C>T , LRG_727t2:c.1008C>T (TYMP) NP_001244918.1:p.Asp336=
NM_001953.4:c.1008C>T (TYMP) NP_001944.1:p.Asp336=
NM_001113755.3:c.1008C>T (TYMP) NP_001107227.1:p.Asp336=
NM_001113756.3:c.1008C>T (TYMP) NP_001107228.1:p.Asp336=
NM_001953.5:c.1008C>T (TYMP) MANE Select NP_001944.1:p.Asp336=
NM_001169109.2:c.-165C>T (SCO2) NP_001162580.1:n.-165C>T