Canonical Allele Identifier: CA2470008824
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.8734195C= , CM000686.2:g.8734195C= GRCh38
NC_000024.9:g.8602236C= , CM000686.1:g.8602236C= GRCh37
NC_000024.8:g.8662236C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000623558.1:c.197-5635C= ENSP00000485446.1:n.197-5635C=
ENST00000624237.1:c.64-7860C= ENSP00000485137.1:n.64-7860C=
ENST00000624593.1:c.-57+14521G= ENSP00000485106.1:n.-57+14521G=