Canonical Allele Identifier: CA2663016707

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216033807G>T , CM000664.2:g.216033807G>T GRCh38
NC_000002.11:g.216898530G>T , CM000664.1:g.216898530G>T GRCh37
NC_000002.10:g.216606775G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000424992.5:c.-68+155C>A (MREG) ENSP00000413302.1:n.-68+155C>A
ENST00000442122.5:c.*440+5384C>A (PECR) ENSP00000395512.1:n.*440+5384C>A
XR_001738847.2:n.1056-955C>A (PECR)
NM_001372189.1:c.-68+155C>A (MREG) NP_001359118.1:n.-68+155C>A