Canonical Allele Identifier: CA2525998459

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216028911A>G , CM000664.2:g.216028911A>G GRCh38
NC_000002.11:g.216893634A>G , CM000664.1:g.216893634A>G GRCh37
NC_000002.10:g.216601879A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000420348.1:c.-68+3878T>C (MREG) ENSP00000404470.1:n.-68+3878T>C
ENST00000424992.5:c.-68+5051T>C (MREG) ENSP00000413302.1:n.-68+5051T>C
ENST00000439791.5:c.-68+4772T>C (MREG) ENSP00000411076.1:n.-68+4772T>C
ENST00000442122.5:c.*440+10280T>C (PECR) ENSP00000395512.1:n.*440+10280T>C
NM_001372189.1:c.-68+5051T>C (MREG) NP_001359118.1:n.-68+5051T>C
NM_001372190.1:c.-68+4772T>C (MREG) NP_001359119.1:n.-68+4772T>C