Canonical Allele Identifier: CA2000590692
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112166664T= , CM000673.2:g.112166664T= GRCh38
NC_000011.9:g.112037387T= , CM000673.1:g.112037387T= GRCh37
NC_000011.8:g.111542597T= NCBI36
NG_028143.1:g.2454A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000525987.5:n.320-3755T=
ENST00000531744.5:c.315-3755T= ENSP00000456957.1:n.315-3755T=
ENST00000532699.1:c.315-3755T= ENSP00000456434.1:n.315-3755T=