Canonical Allele Identifier: CA1327644298

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216033752C= , CM000664.2:g.216033752C= GRCh38
NC_000002.11:g.216898475C= , CM000664.1:g.216898475C= GRCh37
NC_000002.10:g.216606720C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000424992.5:c.-68+210G= (MREG) ENSP00000413302.1:n.-68+210G=
ENST00000439791.5:c.-137G= (MREG) ENSP00000411076.1:n.-137G=
ENST00000442122.5:c.*440+5439G= (PECR) ENSP00000395512.1:n.*440+5439G=
XR_001738847.2:n.1056-900G= (PECR)
NM_001372189.1:c.-68+210G= (MREG) NP_001359118.1:n.-68+210G=
NM_001372190.1:c.-137G= (MREG) NP_001359119.1:n.-137G=