Canonical Allele Identifier: CA414969649
Gene: AMELY HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6872571G>T , CM000686.2:g.6872571G>T GRCh38
NC_000024.9:g.6740612G>T , CM000686.1:g.6740612G>T GRCh37
NC_000024.8:g.6800612G>T NCBI36
NG_008011.1:g.6457C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651267.2:c.38C>A MANE Select ENSP00000498344.1:p.Ala13Glu
ENST00000215479.10:c.38C>A ENSP00000215479.5:p.Ala13Glu
ENST00000651267.1:c.38C>A ENSP00000498344.1:p.Ala13Glu
ENST00000215479.9:c.38C>A ENSP00000215479.5:p.Ala13Glu
ENST00000383036.1:c.38C>A ENSP00000372505.1:p.Ala13Glu
NM_001143.1:c.38C>A NP_001134.1:p.Ala13Glu
XM_011531472.1:c.38C>A XP_011529774.1:p.Ala13Glu
NM_001364814.1:c.38C>A NP_001351743.1:p.Ala13Glu
NM_001143.2:c.38C>A MANE Select NP_001134.1:p.Ala13Glu