Canonical Allele Identifier: CA2663016777

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216034016G>T , CM000664.2:g.216034016G>T GRCh38
NC_000002.11:g.216898739G>T , CM000664.1:g.216898739G>T GRCh37
NC_000002.10:g.216606984G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000424992.5:c.-122C>A (MREG) ENSP00000413302.1:n.-122C>A
ENST00000442122.5:c.*440+5175C>A (PECR) ENSP00000395512.1:n.*440+5175C>A
XR_001738847.2:n.1056-1164C>A (PECR)
NM_001372189.1:c.-122C>A (MREG) NP_001359118.1:n.-122C>A