Canonical Allele Identifier: CA2470007440
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.8707915A= , CM000686.2:g.8707915A= GRCh38
NC_000024.9:g.8575956A= , CM000686.1:g.8575956A= GRCh37
NC_000024.8:g.8635956A= NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000623558.1:c.139+8883A= ENSP00000485446.1:n.139+8883A=
ENST00000624593.1:c.-57+40801T= ENSP00000485106.1:n.-57+40801T=