Canonical Allele Identifier: CA2766273087
Gene: AMELY HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6872745T>C , CM000686.2:g.6872745T>C GRCh38
NC_000024.9:g.6740786T>C , CM000686.1:g.6740786T>C GRCh37
NC_000024.8:g.6800786T>C NCBI36
NG_008011.1:g.6283A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000651267.2:c.-12-125A>G MANE Select ENSP00000498344.1:n.-12-125A>G
ENST00000215479.10:c.-12-125A>G ENSP00000215479.5:n.-12-125A>G
ENST00000651267.1:c.-12-125A>G ENSP00000498344.1:n.-12-125A>G
ENST00000215479.9:c.-12-125A>G ENSP00000215479.5:n.-12-125A>G
NM_001143.1:c.-12-125A>G NP_001134.1:n.-12-125A>G
XM_011531472.1:c.-12-125A>G XP_011529774.1:n.-12-125A>G
NM_001364814.1:c.-12-125A>G NP_001351743.1:n.-12-125A>G
NM_001143.2:c.-12-125A>G MANE Select NP_001134.1:n.-12-125A>G