Canonical Allele Identifier: CA2579746829

Gene: AMELY

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.6868032C>T , CM000686.2:g.6868032C>T	GRCh38
NC_000024.9:g.6736073C>T , CM000686.1:g.6736073C>T	GRCh37
NC_000024.8:g.6796073C>T	NCBI36
NG_008011.1:g.10996G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000651267.2:c.573+5G>A MANE Select	ENSP00000498344.1:n.573+5G>A
ENST00000215479.10:c.573+5G>A	ENSP00000215479.5:n.573+5G>A
ENST00000651267.1:c.573+5G>A	ENSP00000498344.1:n.573+5G>A
ENST00000215479.9:c.573+5G>A	ENSP00000215479.5:n.573+5G>A
ENST00000383036.1:c.615+5G>A	ENSP00000372505.1:n.615+5G>A
NM_001143.1:c.573+5G>A	NP_001134.1:n.573+5G>A
XM_011531472.1:c.615+5G>A	XP_011529774.1:n.615+5G>A
NM_001364814.1:c.615+5G>A	NP_001351743.1:n.615+5G>A
NM_001143.2:c.573+5G>A MANE Select	NP_001134.1:n.573+5G>A