Canonical Allele Identifier: CA1327644414

Linked Data

dbSNP Id: rs1694752962

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216034004A>C , CM000664.2:g.216034004A>C GRCh38
NC_000002.11:g.216898727A>C , CM000664.1:g.216898727A>C GRCh37
NC_000002.10:g.216606972A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000424992.5:c.-110T>G (MREG) ENSP00000413302.1:n.-110T>G
ENST00000442122.5:c.*440+5187T>G (PECR) ENSP00000395512.1:n.*440+5187T>G
XR_001738847.2:n.1056-1152T>G (PECR)
NM_001372189.1:c.-110T>G (MREG) NP_001359118.1:n.-110T>G