Canonical Allele Identifier: CA1327644324

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216033797A= , CM000664.2:g.216033797A= GRCh38
NC_000002.11:g.216898520A= , CM000664.1:g.216898520A= GRCh37
NC_000002.10:g.216606765A= NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000424992.5:c.-68+165T= (MREG) ENSP00000413302.1:n.-68+165T=
ENST00000439791.5:c.-182T= (MREG) ENSP00000411076.1:n.-182T=
ENST00000442122.5:c.*440+5394T= (PECR) ENSP00000395512.1:n.*440+5394T=
XR_001738847.2:n.1056-945T= (PECR)
NM_001372189.1:c.-68+165T= (MREG) NP_001359118.1:n.-68+165T=
NM_001372190.1:c.-182T= (MREG) NP_001359119.1:n.-182T=