Canonical Allele Identifier: CA2663016741

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216033893C>T , CM000664.2:g.216033893C>T GRCh38
NC_000002.11:g.216898616C>T , CM000664.1:g.216898616C>T GRCh37
NC_000002.10:g.216606861C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000424992.5:c.-68+69G>A (MREG) ENSP00000413302.1:n.-68+69G>A
ENST00000442122.5:c.*440+5298G>A (PECR) ENSP00000395512.1:n.*440+5298G>A
XR_001738847.2:n.1056-1041G>A (PECR)
NM_001372189.1:c.-68+69G>A (MREG) NP_001359118.1:n.-68+69G>A