Canonical Allele Identifier: CA337551271
Gene: AMELY HGNC NCBI

Linked Data

dbSNP Id: rs1048027644
gnomAD v3: Y-6885122-C-T
gnomAD v4: Y-6885122-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6885122C>T , CM000686.2:g.6885122C>T GRCh38
NC_000024.9:g.6753163C>T , CM000686.1:g.6753163C>T GRCh37
NC_000024.8:g.6813163C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651267.2:c.-112-11051G>A MANE Select ENSP00000498344.1:n.-112-11051G>A
ENST00000651267.1:c.-112-11051G>A ENSP00000498344.1:n.-112-11051G>A
XM_011531472.1:c.-112-11051G>A XP_011529774.1:n.-112-11051G>A
NM_001143.2:c.-112-11051G>A MANE Select NP_001134.1:n.-112-11051G>A