Canonical Allele Identifier: CA2000590018
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112164828C= , CM000673.2:g.112164828C= GRCh38
NC_000011.9:g.112035551C= , CM000673.1:g.112035551C= GRCh37
NC_000011.8:g.111540761C= NCBI36
NG_028143.1:g.4290G=

Transcript Alleles

HGVS Amino-acid change
ENST00000525987.5:n.320-5591C=
ENST00000531744.5:c.315-5591C= ENSP00000456957.1:n.315-5591C=
ENST00000532699.1:c.315-5591C= ENSP00000456434.1:n.315-5591C=