Canonical Allele Identifier: CA1042294389

Linked Data

dbSNP Id: rs1694752560

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216033984T>C , CM000664.2:g.216033984T>C GRCh38
NC_000002.11:g.216898707T>C , CM000664.1:g.216898707T>C GRCh37
NC_000002.10:g.216606952T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000424992.5:c.-90A>G (MREG) ENSP00000413302.1:n.-90A>G
ENST00000442122.5:c.*440+5207A>G (PECR) ENSP00000395512.1:n.*440+5207A>G
XR_001738847.2:n.1056-1132A>G (PECR)
NM_001372189.1:c.-90A>G (MREG) NP_001359118.1:n.-90A>G