Canonical Allele Identifier: CA1138828760
Gene: AMELY HGNC NCBI

Linked Data

gnomAD v3: Y-6885383-G-A
gnomAD v4: Y-6885383-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6885383G>A , CM000686.2:g.6885383G>A GRCh38
NC_000024.9:g.6753424G>A , CM000686.1:g.6753424G>A GRCh37
NC_000024.8:g.6813424G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651267.2:c.-112-11312C>T MANE Select ENSP00000498344.1:n.-112-11312C>T
ENST00000651267.1:c.-112-11312C>T ENSP00000498344.1:n.-112-11312C>T
XM_011531472.1:c.-112-11312C>T XP_011529774.1:n.-112-11312C>T
NM_001143.2:c.-112-11312C>T MANE Select NP_001134.1:n.-112-11312C>T
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