Canonical Allele Identifier: CA65565254

Linked Data

dbSNP Id: rs956092145

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216033903T>C , CM000664.2:g.216033903T>C GRCh38
NC_000002.11:g.216898626T>C , CM000664.1:g.216898626T>C GRCh37
NC_000002.10:g.216606871T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000424992.5:c.-68+59A>G (MREG) ENSP00000413302.1:n.-68+59A>G
ENST00000442122.5:c.*440+5288A>G (PECR) ENSP00000395512.1:n.*440+5288A>G
XR_001738847.2:n.1056-1051A>G (PECR)
NM_001372189.1:c.-68+59A>G (MREG) NP_001359118.1:n.-68+59A>G