Canonical Allele Identifier: CA2754235723

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216028837A>C , CM000664.2:g.216028837A>C GRCh38
NC_000002.11:g.216893560A>C , CM000664.1:g.216893560A>C GRCh37
NC_000002.10:g.216601805A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000420348.1:c.-68+3952T>G (MREG) ENSP00000404470.1:n.-68+3952T>G
ENST00000424992.5:c.-68+5125T>G (MREG) ENSP00000413302.1:n.-68+5125T>G
ENST00000439791.5:c.-68+4846T>G (MREG) ENSP00000411076.1:n.-68+4846T>G
ENST00000442122.5:c.*440+10354T>G (PECR) ENSP00000395512.1:n.*440+10354T>G
NM_001372189.1:c.-68+5125T>G (MREG) NP_001359118.1:n.-68+5125T>G
NM_001372190.1:c.-68+4846T>G (MREG) NP_001359119.1:n.-68+4846T>G