Canonical Allele Identifier: CA2000590014
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112164823G= , CM000673.2:g.112164823G= GRCh38
NC_000011.9:g.112035546G= , CM000673.1:g.112035546G= GRCh37
NC_000011.8:g.111540756G= NCBI36
NG_028143.1:g.4295C=

Transcript Alleles

HGVS Amino-acid change
ENST00000525987.5:n.320-5596G=
ENST00000531744.5:c.315-5596G= ENSP00000456957.1:n.315-5596G=
ENST00000532699.1:c.315-5596G= ENSP00000456434.1:n.315-5596G=