Canonical Allele Identifier: CA343154749

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169731847T>A , CM000663.2:g.169731847T>A GRCh38
NC_000001.10:g.169700988T>A , CM000663.1:g.169700988T>A GRCh37
NC_000001.9:g.167967612T>A NCBI36
NG_012124.1:g.7233A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000333360.12:c.517A>T (SELE) MANE Select ENSP00000331736.7:p.Lys173Ter
ENST00000333360.11:c.517A>T (SELE) ENSP00000331736.7:p.Lys173Ter
ENST00000367774.1:c.517A>T (SELE) ENSP00000356748.1:p.Lys173Ter
ENST00000367775.5:c.517A>T (SELE) ENSP00000356749.1:p.Lys173Ter
ENST00000367776.5:c.517A>T (SELE) ENSP00000356750.1:p.Lys173Ter
ENST00000367777.5:c.517A>T (SELE) ENSP00000356751.1:p.Lys173Ter
ENST00000461085.1:n.200A>T (SELE)
ENST00000498289.5:n.851+47915T>A (FIRRM)
NM_000450.2:c.517A>T (SELE) MANE Select NP_000441.2:p.Lys173Ter