Canonical Allele Identifier: CA2469903486
Gene: AMELY HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6872710G= , CM000686.2:g.6872710G= GRCh38
NC_000024.9:g.6740751G= , CM000686.1:g.6740751G= GRCh37
NC_000024.8:g.6800751G= NCBI36
NG_008011.1:g.6318C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000651267.2:c.-12-90C= MANE Select ENSP00000498344.1:n.-12-90C=
ENST00000215479.10:c.-12-90C= ENSP00000215479.5:n.-12-90C=
ENST00000651267.1:c.-12-90C= ENSP00000498344.1:n.-12-90C=
ENST00000215479.9:c.-12-90C= ENSP00000215479.5:n.-12-90C=
NM_001143.1:c.-12-90C= NP_001134.1:n.-12-90C=
XM_011531472.1:c.-12-90C= XP_011529774.1:n.-12-90C=
NM_001364814.1:c.-12-90C= NP_001351743.1:n.-12-90C=
NM_001143.2:c.-12-90C= MANE Select NP_001134.1:n.-12-90C=