Canonical Allele Identifier: CA1327644316

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216033782G= , CM000664.2:g.216033782G= GRCh38
NC_000002.11:g.216898505G= , CM000664.1:g.216898505G= GRCh37
NC_000002.10:g.216606750G= NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000424992.5:c.-68+180C= (MREG) ENSP00000413302.1:n.-68+180C=
ENST00000439791.5:c.-167C= (MREG) ENSP00000411076.1:n.-167C=
ENST00000442122.5:c.*440+5409C= (PECR) ENSP00000395512.1:n.*440+5409C=
XR_001738847.2:n.1056-930C= (PECR)
NM_001372189.1:c.-68+180C= (MREG) NP_001359118.1:n.-68+180C=
NM_001372190.1:c.-167C= (MREG) NP_001359119.1:n.-167C=