Canonical Allele Identifier: CA2579746886
Gene: AMELY HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6872510C>T , CM000686.2:g.6872510C>T GRCh38
NC_000024.9:g.6740551C>T , CM000686.1:g.6740551C>T GRCh37
NC_000024.8:g.6800551C>T NCBI36
NG_008011.1:g.6518G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651267.2:c.54+45G>A MANE Select ENSP00000498344.1:n.54+45G>A
ENST00000215479.10:c.54+45G>A ENSP00000215479.5:n.54+45G>A
ENST00000651267.1:c.54+45G>A ENSP00000498344.1:n.54+45G>A
ENST00000215479.9:c.54+45G>A ENSP00000215479.5:n.54+45G>A
ENST00000383036.1:c.54+45G>A ENSP00000372505.1:n.54+45G>A
NM_001143.1:c.54+45G>A NP_001134.1:n.54+45G>A
XM_011531472.1:c.54+45G>A XP_011529774.1:n.54+45G>A
NM_001364814.1:c.54+45G>A NP_001351743.1:n.54+45G>A
NM_001143.2:c.54+45G>A MANE Select NP_001134.1:n.54+45G>A
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