Canonical Allele Identifier: CA2469903476
Gene: AMELY HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6872594A= , CM000686.2:g.6872594A= GRCh38
NC_000024.9:g.6740635A= , CM000686.1:g.6740635A= GRCh37
NC_000024.8:g.6800635A= NCBI36
NG_008011.1:g.6434T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000651267.2:c.15T= MANE Select ENSP00000498344.1:p.Ile5=
ENST00000215479.10:c.15T= ENSP00000215479.5:p.Ile5=
ENST00000651267.1:c.15T= ENSP00000498344.1:p.Ile5=
ENST00000215479.9:c.15T= ENSP00000215479.5:p.Ile5=
ENST00000383036.1:c.15T= ENSP00000372505.1:p.Ile5=
NM_001143.1:c.15T= NP_001134.1:p.Ile5=
XM_011531472.1:c.15T= XP_011529774.1:p.Ile5=
NM_001364814.1:c.15T= NP_001351743.1:p.Ile5=
NM_001143.2:c.15T= MANE Select NP_001134.1:p.Ile5=