Canonical Allele Identifier: CA2528002305

Gene: AMELY

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.6866646T>C , CM000686.2:g.6866646T>C	GRCh38
NC_000024.9:g.6734687T>C , CM000686.1:g.6734687T>C	GRCh37
NC_000024.8:g.6794687T>C	NCBI36
NG_008011.1:g.12382A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000651267.2:c.574-568A>G MANE Select	ENSP00000498344.1:n.574-568A>G
ENST00000215479.10:c.574-568A>G	ENSP00000215479.5:n.574-568A>G
ENST00000651267.1:c.574-568A>G	ENSP00000498344.1:n.574-568A>G
ENST00000215479.9:c.574-568A>G	ENSP00000215479.5:n.574-568A>G
ENST00000383036.1:c.616-568A>G	ENSP00000372505.1:n.616-568A>G
NM_001143.1:c.574-568A>G	NP_001134.1:n.574-568A>G
XM_011531472.1:c.616-568A>G	XP_011529774.1:n.616-568A>G
NM_001364814.1:c.616-568A>G	NP_001351743.1:n.616-568A>G
NM_001143.2:c.574-568A>G MANE Select	NP_001134.1:n.574-568A>G