Canonical Allele Identifier: CA2553021485
Gene: AMELY HGNC NCBI
TBL1Y HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6909863T>C , CM000686.2:g.6909863T>C GRCh38
NC_000024.9:g.6777904T>C , CM000686.1:g.6777904T>C GRCh37
NC_000024.8:g.6837904T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651267.2:c.-113+1810A>G (AMELY) MANE Select ENSP00000498344.1:n.-113+1810A>G
ENST00000651267.1:c.-113+1810A>G (AMELY) ENSP00000498344.1:n.-113+1810A>G
XM_011531472.1:c.-113+1810A>G (AMELY) XP_011529774.1:n.-113+1810A>G
XM_024452497.1:c.-591T>C (TBL1Y) XP_024308265.1:n.-591T>C
NM_001143.2:c.-113+1810A>G (AMELY) MANE Select NP_001134.1:n.-113+1810A>G
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