Canonical Allele Identifier: CA2469904293
Gene: AMELY HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6885257A= , CM000686.2:g.6885257A= GRCh38
NC_000024.9:g.6753298A= , CM000686.1:g.6753298A= GRCh37
NC_000024.8:g.6813298A= NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651267.2:c.-112-11186T= MANE Select ENSP00000498344.1:n.-112-11186T=
ENST00000651267.1:c.-112-11186T= ENSP00000498344.1:n.-112-11186T=
XM_011531472.1:c.-112-11186T= XP_011529774.1:n.-112-11186T=
NM_001143.2:c.-112-11186T= MANE Select NP_001134.1:n.-112-11186T=
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