Canonical Allele Identifier: CA2000590733
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112166761G= , CM000673.2:g.112166761G= GRCh38
NC_000011.9:g.112037484G= , CM000673.1:g.112037484G= GRCh37
NC_000011.8:g.111542694G= NCBI36
NG_028143.1:g.2357C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000525987.5:n.320-3658G=
ENST00000531744.5:c.315-3658G= ENSP00000456957.1:n.315-3658G=
ENST00000532699.1:c.315-3658G= ENSP00000456434.1:n.315-3658G=