Canonical Allele Identifier: CA1327642331

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216028984C= , CM000664.2:g.216028984C= GRCh38
NC_000002.11:g.216893707C= , CM000664.1:g.216893707C= GRCh37
NC_000002.10:g.216601952C= NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000420348.1:c.-68+3805G= (MREG) ENSP00000404470.1:n.-68+3805G=
ENST00000424992.5:c.-68+4978G= (MREG) ENSP00000413302.1:n.-68+4978G=
ENST00000439791.5:c.-68+4699G= (MREG) ENSP00000411076.1:n.-68+4699G=
ENST00000442122.5:c.*440+10207G= (PECR) ENSP00000395512.1:n.*440+10207G=
NM_001372189.1:c.-68+4978G= (MREG) NP_001359118.1:n.-68+4978G=
NM_001372190.1:c.-68+4699G= (MREG) NP_001359119.1:n.-68+4699G=