Canonical Allele Identifier: CA65565421

Linked Data

dbSNP Id: rs888113053

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216034092T>C , CM000664.2:g.216034092T>C GRCh38
NC_000002.11:g.216898815T>C , CM000664.1:g.216898815T>C GRCh37
NC_000002.10:g.216607060T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000424992.5:c.-198A>G (MREG) ENSP00000413302.1:n.-198A>G
ENST00000442122.5:c.*440+5099A>G (PECR) ENSP00000395512.1:n.*440+5099A>G
XR_001738847.2:n.1056-1240A>G (PECR)
NM_001372189.1:c.-198A>G (MREG) NP_001359118.1:n.-198A>G