Canonical Allele Identifier: CA414969676
Gene: AMELY HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6872578C>G , CM000686.2:g.6872578C>G GRCh38
NC_000024.9:g.6740619C>G , CM000686.1:g.6740619C>G GRCh37
NC_000024.8:g.6800619C>G NCBI36
NG_008011.1:g.6450G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651267.2:c.31G>C MANE Select ENSP00000498344.1:p.Val11Leu
ENST00000215479.10:c.31G>C ENSP00000215479.5:p.Val11Leu
ENST00000651267.1:c.31G>C ENSP00000498344.1:p.Val11Leu
ENST00000215479.9:c.31G>C ENSP00000215479.5:p.Val11Leu
ENST00000383036.1:c.31G>C ENSP00000372505.1:p.Val11Leu
NM_001143.1:c.31G>C NP_001134.1:p.Val11Leu
XM_011531472.1:c.31G>C XP_011529774.1:p.Val11Leu
NM_001364814.1:c.31G>C NP_001351743.1:p.Val11Leu
NM_001143.2:c.31G>C MANE Select NP_001134.1:p.Val11Leu