Canonical Allele Identifier: CA343155198

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169731917A>T , CM000663.2:g.169731917A>T GRCh38
NC_000001.10:g.169701058A>T , CM000663.1:g.169701058A>T GRCh37
NC_000001.9:g.167967682A>T NCBI36
NG_012124.1:g.7163T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000333360.12:c.447T>A (SELE) MANE Select ENSP00000331736.7:p.Ser149Arg
ENST00000333360.11:c.447T>A (SELE) ENSP00000331736.7:p.Ser149Arg
ENST00000367774.1:c.447T>A (SELE) ENSP00000356748.1:p.Ser149Arg
ENST00000367775.5:c.447T>A (SELE) ENSP00000356749.1:p.Ser149Arg
ENST00000367776.5:c.447T>A (SELE) ENSP00000356750.1:p.Ser149Arg
ENST00000367777.5:c.447T>A (SELE) ENSP00000356751.1:p.Ser149Arg
ENST00000461085.1:n.130T>A (SELE)
ENST00000498289.5:n.851+47985A>T (FIRRM)
NM_000450.2:c.447T>A (SELE) MANE Select NP_000441.2:p.Ser149Arg