Canonical Allele Identifier: CA764687394

Linked Data

dbSNP Id: rs1234957144

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216033928G>A , CM000664.2:g.216033928G>A GRCh38
NC_000002.11:g.216898651G>A , CM000664.1:g.216898651G>A GRCh37
NC_000002.10:g.216606896G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000424992.5:c.-68+34C>T (MREG) ENSP00000413302.1:n.-68+34C>T
ENST00000442122.5:c.*440+5263C>T (PECR) ENSP00000395512.1:n.*440+5263C>T
XR_001738847.2:n.1056-1076C>T (PECR)
NM_001372189.1:c.-68+34C>T (MREG) NP_001359118.1:n.-68+34C>T