Canonical Allele Identifier: CA2469903121

Gene: AMELY

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.6866661G= , CM000686.2:g.6866661G=	GRCh38
NC_000024.9:g.6734702G= , CM000686.1:g.6734702G=	GRCh37
NC_000024.8:g.6794702G=	NCBI36
NG_008011.1:g.12367C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000651267.2:c.574-583C= MANE Select	ENSP00000498344.1:n.574-583C=
ENST00000215479.10:c.574-583C=	ENSP00000215479.5:n.574-583C=
ENST00000651267.1:c.574-583C=	ENSP00000498344.1:n.574-583C=
ENST00000215479.9:c.574-583C=	ENSP00000215479.5:n.574-583C=
ENST00000383036.1:c.616-583C=	ENSP00000372505.1:n.616-583C=
NM_001143.1:c.574-583C=	NP_001134.1:n.574-583C=
XM_011531472.1:c.616-583C=	XP_011529774.1:n.616-583C=
NM_001364814.1:c.616-583C=	NP_001351743.1:n.616-583C=
NM_001143.2:c.574-583C= MANE Select	NP_001134.1:n.574-583C=