Canonical Allele Identifier: CA65561110

Linked Data

dbSNP Id: rs955404680

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216028786G>A , CM000664.2:g.216028786G>A GRCh38
NC_000002.11:g.216893509G>A , CM000664.1:g.216893509G>A GRCh37
NC_000002.10:g.216601754G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000420348.1:c.-68+4003C>T (MREG) ENSP00000404470.1:n.-68+4003C>T
ENST00000424992.5:c.-68+5176C>T (MREG) ENSP00000413302.1:n.-68+5176C>T
ENST00000439791.5:c.-68+4897C>T (MREG) ENSP00000411076.1:n.-68+4897C>T
ENST00000442122.5:c.*440+10405C>T (PECR) ENSP00000395512.1:n.*440+10405C>T
NM_001372189.1:c.-68+5176C>T (MREG) NP_001359118.1:n.-68+5176C>T
NM_001372190.1:c.-68+4897C>T (MREG) NP_001359119.1:n.-68+4897C>T