Canonical Allele Identifier: CA10571912

Gene: AMELY

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.6868113C>T , CM000686.2:g.6868113C>T	GRCh38
NC_000024.9:g.6736154C>T , CM000686.1:g.6736154C>T	GRCh37
NC_000024.8:g.6796154C>T	NCBI36
NG_008011.1:g.10915G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001143.2:c.497G>A MANE Select	NP_001134.1:p.Arg166Gln
ENST00000651267.2:c.497G>A MANE Select	ENSP00000498344.1:p.Arg166Gln
NM_001143.1:c.497G>A	NP_001134.1:p.Arg166Gln
NM_001364814.1:c.539G>A	NP_001351743.1:p.Arg180Gln
ENST00000215479.10:c.497G>A	ENSP00000215479.5:p.Arg166Gln
ENST00000215479.9:c.497G>A	ENSP00000215479.5:p.Arg166Gln
ENST00000383036.1:c.539G>A	ENSP00000372505.1:p.Arg180Gln
ENST00000651267.1:c.497G>A	ENSP00000498344.1:p.Arg166Gln
XM_011531472.1:c.539G>A	XP_011529774.1:p.Arg180Gln