Canonical Allele Identifier: CA343154715

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169731842A>C , CM000663.2:g.169731842A>C GRCh38
NC_000001.10:g.169700983A>C , CM000663.1:g.169700983A>C GRCh37
NC_000001.9:g.167967607A>C NCBI36
NG_012124.1:g.7238T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000333360.12:c.522T>G (SELE) MANE Select ENSP00000331736.7:p.Cys174Trp
ENST00000333360.11:c.522T>G (SELE) ENSP00000331736.7:p.Cys174Trp
ENST00000367774.1:c.522T>G (SELE) ENSP00000356748.1:p.Cys174Trp
ENST00000367775.5:c.522T>G (SELE) ENSP00000356749.1:p.Cys174Trp
ENST00000367776.5:c.522T>G (SELE) ENSP00000356750.1:p.Cys174Trp
ENST00000367777.5:c.522T>G (SELE) ENSP00000356751.1:p.Cys174Trp
ENST00000461085.1:n.205T>G (SELE)
ENST00000498289.5:n.851+47910A>C (FIRRM)
NM_000450.2:c.522T>G (SELE) MANE Select NP_000441.2:p.Cys174Trp