Canonical Allele Identifier: CA1206216847

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169731561G= , CM000663.2:g.169731561G= GRCh38
NC_000001.10:g.169700702G= , CM000663.1:g.169700702G= GRCh37
NC_000001.9:g.167967326G= NCBI36
NG_012124.1:g.7519C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000333360.12:c.529+274C= (SELE) MANE Select ENSP00000331736.7:n.529+274C=
ENST00000333360.11:c.529+274C= (SELE) ENSP00000331736.7:n.529+274C=
ENST00000367774.1:c.529+274C= (SELE) ENSP00000356748.1:n.529+274C=
ENST00000367775.5:c.529+274C= (SELE) ENSP00000356749.1:n.529+274C=
ENST00000367776.5:c.529+274C= (SELE) ENSP00000356750.1:n.529+274C=
ENST00000367777.5:c.529+274C= (SELE) ENSP00000356751.1:n.529+274C=
ENST00000461085.1:n.486C= (SELE)
ENST00000498289.5:n.851+47629G= (FIRRM)
NM_000450.2:c.529+274C= (SELE) MANE Select NP_000441.2:n.529+274C=