Canonical Allele Identifier: CA1138819619

Gene: AMELY

Linked Data

• dbSNP Id: rs2054062053
• gnomAD v3: Y-6866629-A-C
• gnomAD v4: Y-6866629-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.6866629A>C , CM000686.2:g.6866629A>C	GRCh38
NC_000024.9:g.6734670A>C , CM000686.1:g.6734670A>C	GRCh37
NC_000024.8:g.6794670A>C	NCBI36
NG_008011.1:g.12399T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000651267.2:c.574-551T>G MANE Select	ENSP00000498344.1:n.574-551T>G
ENST00000215479.10:c.574-551T>G	ENSP00000215479.5:n.574-551T>G
ENST00000651267.1:c.574-551T>G	ENSP00000498344.1:n.574-551T>G
ENST00000215479.9:c.574-551T>G	ENSP00000215479.5:n.574-551T>G
ENST00000383036.1:c.616-551T>G	ENSP00000372505.1:n.616-551T>G
NM_001143.1:c.574-551T>G	NP_001134.1:n.574-551T>G
XM_011531472.1:c.616-551T>G	XP_011529774.1:n.616-551T>G
NM_001364814.1:c.616-551T>G	NP_001351743.1:n.616-551T>G
NM_001143.2:c.574-551T>G MANE Select	NP_001134.1:n.574-551T>G