Canonical Allele Identifier: CA2034479245
Community Standard Title: NC_000012.12:g.48027251A=
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48027251A= , CM000674.2:g.48027251A= GRCh38
NC_000012.11:g.48421034A= , CM000674.1:g.48421034A= GRCh37
NC_000012.10:g.46707301A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001749115.2:n.227-2520A=
XR_001749116.2:n.168-2520A=
XR_944904.1:n.227-2520A=
XR_944904.2:n.227-2520A=
XR_944908.1:n.168-2520A=