Canonical Allele Identifier: CA414969747
Gene: AMELY HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6872592A>C , CM000686.2:g.6872592A>C GRCh38
NC_000024.9:g.6740633A>C , CM000686.1:g.6740633A>C GRCh37
NC_000024.8:g.6800633A>C NCBI36
NG_008011.1:g.6436T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000651267.2:c.17T>G MANE Select ENSP00000498344.1:p.Leu6Trp
ENST00000215479.10:c.17T>G ENSP00000215479.5:p.Leu6Trp
ENST00000651267.1:c.17T>G ENSP00000498344.1:p.Leu6Trp
ENST00000215479.9:c.17T>G ENSP00000215479.5:p.Leu6Trp
ENST00000383036.1:c.17T>G ENSP00000372505.1:p.Leu6Trp
NM_001143.1:c.17T>G NP_001134.1:p.Leu6Trp
XM_011531472.1:c.17T>G XP_011529774.1:p.Leu6Trp
NM_001364814.1:c.17T>G NP_001351743.1:p.Leu6Trp
NM_001143.2:c.17T>G MANE Select NP_001134.1:p.Leu6Trp