Canonical Allele Identifier: CA343155283

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169731930T>G , CM000663.2:g.169731930T>G GRCh38
NC_000001.10:g.169701071T>G , CM000663.1:g.169701071T>G GRCh37
NC_000001.9:g.167967695T>G NCBI36
NG_012124.1:g.7150A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000333360.12:c.434A>C (SELE) MANE Select ENSP00000331736.7:p.Asn145Thr
ENST00000333360.11:c.434A>C (SELE) ENSP00000331736.7:p.Asn145Thr
ENST00000367774.1:c.434A>C (SELE) ENSP00000356748.1:p.Asn145Thr
ENST00000367775.5:c.434A>C (SELE) ENSP00000356749.1:p.Asn145Thr
ENST00000367776.5:c.434A>C (SELE) ENSP00000356750.1:p.Asn145Thr
ENST00000367777.5:c.434A>C (SELE) ENSP00000356751.1:p.Asn145Thr
ENST00000461085.1:n.117A>C (SELE)
ENST00000498289.5:n.851+47998T>G (FIRRM)
NM_000450.2:c.434A>C (SELE) MANE Select NP_000441.2:p.Asn145Thr