Canonical Allele Identifier: CA2469905903
Gene: AMELY HGNC NCBI
TBL1Y HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6909804G= , CM000686.2:g.6909804G= GRCh38
NC_000024.9:g.6777845G= , CM000686.1:g.6777845G= GRCh37
NC_000024.8:g.6837845G= NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651267.2:c.-113+1869C= (AMELY) MANE Select ENSP00000498344.1:n.-113+1869C=
ENST00000651267.1:c.-113+1869C= (AMELY) ENSP00000498344.1:n.-113+1869C=
XM_011531472.1:c.-113+1869C= (AMELY) XP_011529774.1:n.-113+1869C=
XM_024452497.1:c.-650G= (TBL1Y) XP_024308265.1:n.-650G=
NM_001143.2:c.-113+1869C= (AMELY) MANE Select NP_001134.1:n.-113+1869C=
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