Canonical Allele Identifier: CA2000590820
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112166974A= , CM000673.2:g.112166974A= GRCh38
NC_000011.9:g.112037697A= , CM000673.1:g.112037697A= GRCh37
NC_000011.8:g.111542907A= NCBI36
NG_028143.1:g.2144T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000525987.5:n.320-3445A=
ENST00000531744.5:c.315-3445A= ENSP00000456957.1:n.315-3445A=
ENST00000532699.1:c.315-3445A= ENSP00000456434.1:n.315-3445A=