Canonical Allele Identifier: CA2766273058
Gene: AMELY HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6872537A>G , CM000686.2:g.6872537A>G GRCh38
NC_000024.9:g.6740578A>G , CM000686.1:g.6740578A>G GRCh37
NC_000024.8:g.6800578A>G NCBI36
NG_008011.1:g.6491T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651267.2:c.54+18T>C MANE Select ENSP00000498344.1:n.54+18T>C
ENST00000215479.10:c.54+18T>C ENSP00000215479.5:n.54+18T>C
ENST00000651267.1:c.54+18T>C ENSP00000498344.1:n.54+18T>C
ENST00000215479.9:c.54+18T>C ENSP00000215479.5:n.54+18T>C
ENST00000383036.1:c.54+18T>C ENSP00000372505.1:n.54+18T>C
NM_001143.1:c.54+18T>C NP_001134.1:n.54+18T>C
XM_011531472.1:c.54+18T>C XP_011529774.1:n.54+18T>C
NM_001364814.1:c.54+18T>C NP_001351743.1:n.54+18T>C
NM_001143.2:c.54+18T>C MANE Select NP_001134.1:n.54+18T>C
Search 100 bp 5'
Search 100 bp 3'