Canonical Allele Identifier: CA1657688848
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.117450133T= , CM000668.2:g.117450133T= GRCh38
NC_000006.11:g.117771296T= , CM000668.1:g.117771296T= GRCh37
NC_000006.10:g.117877989T= NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000467125.1:c.547+116721A= ENSP00000487717.1:n.547+116721A=