Canonical Allele Identifier: CA1327644410

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216033994G= , CM000664.2:g.216033994G= GRCh38
NC_000002.11:g.216898717G= , CM000664.1:g.216898717G= GRCh37
NC_000002.10:g.216606962G= NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000424992.5:c.-100C= (MREG) ENSP00000413302.1:n.-100C=
ENST00000442122.5:c.*440+5197C= (PECR) ENSP00000395512.1:n.*440+5197C=
XR_001738847.2:n.1056-1142C= (PECR)
NM_001372189.1:c.-100C= (MREG) NP_001359118.1:n.-100C=