Canonical Allele Identifier: CA1138828239
Gene: AMELY HGNC NCBI

Linked Data

dbSNP Id: rs2054078278
gnomAD v3: Y-6885208-A-G
gnomAD v4: Y-6885208-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6885208A>G , CM000686.2:g.6885208A>G GRCh38
NC_000024.9:g.6753249A>G , CM000686.1:g.6753249A>G GRCh37
NC_000024.8:g.6813249A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651267.2:c.-112-11137T>C MANE Select ENSP00000498344.1:n.-112-11137T>C
ENST00000651267.1:c.-112-11137T>C ENSP00000498344.1:n.-112-11137T>C
XM_011531472.1:c.-112-11137T>C XP_011529774.1:n.-112-11137T>C
NM_001143.2:c.-112-11137T>C MANE Select NP_001134.1:n.-112-11137T>C
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