Canonical Allele Identifier: CA2766273059

Gene: AMELY

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.6872544G>A , CM000686.2:g.6872544G>A	GRCh38
NC_000024.9:g.6740585G>A , CM000686.1:g.6740585G>A	GRCh37
NC_000024.8:g.6800585G>A	NCBI36
NG_008011.1:g.6484C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651267.2:c.54+11C>T MANE Select	ENSP00000498344.1:n.54+11C>T
ENST00000215479.10:c.54+11C>T	ENSP00000215479.5:n.54+11C>T
ENST00000651267.1:c.54+11C>T	ENSP00000498344.1:n.54+11C>T
ENST00000215479.9:c.54+11C>T	ENSP00000215479.5:n.54+11C>T
ENST00000383036.1:c.54+11C>T	ENSP00000372505.1:n.54+11C>T
NM_001143.1:c.54+11C>T	NP_001134.1:n.54+11C>T
XM_011531472.1:c.54+11C>T	XP_011529774.1:n.54+11C>T
NM_001364814.1:c.54+11C>T	NP_001351743.1:n.54+11C>T
NM_001143.2:c.54+11C>T MANE Select	NP_001134.1:n.54+11C>T