Canonical Allele Identifier: CA764683453

Linked Data

dbSNP Id: rs1399935665

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216028873T>C , CM000664.2:g.216028873T>C GRCh38
NC_000002.11:g.216893596T>C , CM000664.1:g.216893596T>C GRCh37
NC_000002.10:g.216601841T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000420348.1:c.-68+3916A>G (MREG) ENSP00000404470.1:n.-68+3916A>G
ENST00000424992.5:c.-68+5089A>G (MREG) ENSP00000413302.1:n.-68+5089A>G
ENST00000439791.5:c.-68+4810A>G (MREG) ENSP00000411076.1:n.-68+4810A>G
ENST00000442122.5:c.*440+10318A>G (PECR) ENSP00000395512.1:n.*440+10318A>G
NM_001372189.1:c.-68+5089A>G (MREG) NP_001359118.1:n.-68+5089A>G
NM_001372190.1:c.-68+4810A>G (MREG) NP_001359119.1:n.-68+4810A>G