Canonical Allele Identifier: CA2766273055

Gene: AMELY

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.6872487T>G , CM000686.2:g.6872487T>G	GRCh38
NC_000024.9:g.6740528T>G , CM000686.1:g.6740528T>G	GRCh37
NC_000024.8:g.6800528T>G	NCBI36
NG_008011.1:g.6541A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651267.2:c.54+68A>C MANE Select	ENSP00000498344.1:n.54+68A>C
ENST00000215479.10:c.54+68A>C	ENSP00000215479.5:n.54+68A>C
ENST00000651267.1:c.54+68A>C	ENSP00000498344.1:n.54+68A>C
ENST00000215479.9:c.54+68A>C	ENSP00000215479.5:n.54+68A>C
ENST00000383036.1:c.54+68A>C	ENSP00000372505.1:n.54+68A>C
NM_001143.1:c.54+68A>C	NP_001134.1:n.54+68A>C
XM_011531472.1:c.54+68A>C	XP_011529774.1:n.54+68A>C
NM_001364814.1:c.54+68A>C	NP_001351743.1:n.54+68A>C
NM_001143.2:c.54+68A>C MANE Select	NP_001134.1:n.54+68A>C