Canonical Allele Identifier: CA2469903457

Gene: AMELY

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.6872508C= , CM000686.2:g.6872508C=	GRCh38
NC_000024.9:g.6740549C= , CM000686.1:g.6740549C=	GRCh37
NC_000024.8:g.6800549C=	NCBI36
NG_008011.1:g.6520G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000651267.2:c.54+47G= MANE Select	ENSP00000498344.1:n.54+47G=
ENST00000215479.10:c.54+47G=	ENSP00000215479.5:n.54+47G=
ENST00000651267.1:c.54+47G=	ENSP00000498344.1:n.54+47G=
ENST00000215479.9:c.54+47G=	ENSP00000215479.5:n.54+47G=
ENST00000383036.1:c.54+47G=	ENSP00000372505.1:n.54+47G=
NM_001143.1:c.54+47G=	NP_001134.1:n.54+47G=
XM_011531472.1:c.54+47G=	XP_011529774.1:n.54+47G=
NM_001364814.1:c.54+47G=	NP_001351743.1:n.54+47G=
NM_001143.2:c.54+47G= MANE Select	NP_001134.1:n.54+47G=