Canonical Allele Identifier: CA337550907
Gene: AMELY HGNC NCBI

Linked Data

dbSNP Id: rs868357493

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6866639C>T , CM000686.2:g.6866639C>T GRCh38
NC_000024.9:g.6734680C>T , CM000686.1:g.6734680C>T GRCh37
NC_000024.8:g.6794680C>T NCBI36
NG_008011.1:g.12389G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000651267.2:c.574-561G>A MANE Select ENSP00000498344.1:n.574-561G>A
ENST00000215479.10:c.574-561G>A ENSP00000215479.5:n.574-561G>A
ENST00000651267.1:c.574-561G>A ENSP00000498344.1:n.574-561G>A
ENST00000215479.9:c.574-561G>A ENSP00000215479.5:n.574-561G>A
ENST00000383036.1:c.616-561G>A ENSP00000372505.1:n.616-561G>A
NM_001143.1:c.574-561G>A NP_001134.1:n.574-561G>A
XM_011531472.1:c.616-561G>A XP_011529774.1:n.616-561G>A
NM_001364814.1:c.616-561G>A NP_001351743.1:n.616-561G>A
NM_001143.2:c.574-561G>A MANE Select NP_001134.1:n.574-561G>A