Canonical Allele Identifier: CA2754235727

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216028976T>G , CM000664.2:g.216028976T>G GRCh38
NC_000002.11:g.216893699T>G , CM000664.1:g.216893699T>G GRCh37
NC_000002.10:g.216601944T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000420348.1:c.-68+3813A>C (MREG) ENSP00000404470.1:n.-68+3813A>C
ENST00000424992.5:c.-68+4986A>C (MREG) ENSP00000413302.1:n.-68+4986A>C
ENST00000439791.5:c.-68+4707A>C (MREG) ENSP00000411076.1:n.-68+4707A>C
ENST00000442122.5:c.*440+10215A>C (PECR) ENSP00000395512.1:n.*440+10215A>C
NM_001372189.1:c.-68+4986A>C (MREG) NP_001359118.1:n.-68+4986A>C
NM_001372190.1:c.-68+4707A>C (MREG) NP_001359119.1:n.-68+4707A>C