Canonical Allele Identifier: CA1138838570
Gene: AMELY HGNC NCBI
TBL1Y HGNC NCBI

Linked Data

gnomAD v3: Y-6909868-C-G
gnomAD v4: Y-6909868-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6909868C>G , CM000686.2:g.6909868C>G GRCh38
NC_000024.9:g.6777909C>G , CM000686.1:g.6777909C>G GRCh37
NC_000024.8:g.6837909C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651267.2:c.-113+1805G>C (AMELY) MANE Select ENSP00000498344.1:n.-113+1805G>C
ENST00000651267.1:c.-113+1805G>C (AMELY) ENSP00000498344.1:n.-113+1805G>C
XM_011531472.1:c.-113+1805G>C (AMELY) XP_011529774.1:n.-113+1805G>C
XM_024452497.1:c.-586C>G (TBL1Y) XP_024308265.1:n.-586C>G
NM_001143.2:c.-113+1805G>C (AMELY) MANE Select NP_001134.1:n.-113+1805G>C
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