Canonical Allele Identifier: CA1138838536
Gene: AMELY HGNC NCBI
TBL1Y HGNC NCBI

Linked Data

gnomAD v3: Y-6909817-G-A
gnomAD v4: Y-6909817-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6909817G>A , CM000686.2:g.6909817G>A GRCh38
NC_000024.9:g.6777858G>A , CM000686.1:g.6777858G>A GRCh37
NC_000024.8:g.6837858G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651267.2:c.-113+1856C>T (AMELY) MANE Select ENSP00000498344.1:n.-113+1856C>T
ENST00000651267.1:c.-113+1856C>T (AMELY) ENSP00000498344.1:n.-113+1856C>T
XM_011531472.1:c.-113+1856C>T (AMELY) XP_011529774.1:n.-113+1856C>T
XM_024452497.1:c.-637G>A (TBL1Y) XP_024308265.1:n.-637G>A
NM_001143.2:c.-113+1856C>T (AMELY) MANE Select NP_001134.1:n.-113+1856C>T
Search 100 bp 5'
Search 100 bp 3'