Canonical Allele Identifier: CA337550906
Gene: AMELY HGNC NCBI

Linked Data

dbSNP Id: rs372696666
gnomAD v3: Y-6866606-G-A
gnomAD v4: Y-6866606-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6866606G>A , CM000686.2:g.6866606G>A GRCh38
NC_000024.9:g.6734647G>A , CM000686.1:g.6734647G>A GRCh37
NC_000024.8:g.6794647G>A NCBI36
NG_008011.1:g.12422C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000651267.2:c.574-528C>T MANE Select ENSP00000498344.1:n.574-528C>T
ENST00000215479.10:c.574-528C>T ENSP00000215479.5:n.574-528C>T
ENST00000651267.1:c.574-528C>T ENSP00000498344.1:n.574-528C>T
ENST00000215479.9:c.574-528C>T ENSP00000215479.5:n.574-528C>T
ENST00000383036.1:c.616-528C>T ENSP00000372505.1:n.616-528C>T
NM_001143.1:c.574-528C>T NP_001134.1:n.574-528C>T
XM_011531472.1:c.616-528C>T XP_011529774.1:n.616-528C>T
NM_001364814.1:c.616-528C>T NP_001351743.1:n.616-528C>T
NM_001143.2:c.574-528C>T MANE Select NP_001134.1:n.574-528C>T