Canonical Allele Identifier: CA2000590753
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112166797G= , CM000673.2:g.112166797G= GRCh38
NC_000011.9:g.112037520G= , CM000673.1:g.112037520G= GRCh37
NC_000011.8:g.111542730G= NCBI36
NG_028143.1:g.2321C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000525987.5:n.320-3622G=
ENST00000531744.5:c.315-3622G= ENSP00000456957.1:n.315-3622G=
ENST00000532699.1:c.315-3622G= ENSP00000456434.1:n.315-3622G=