Canonical Allele Identifier: CA519498453
Gene: AMELY HGNC NCBI

Linked Data

MyVariant Identifiers: chrY:g.6740605A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6872564A>G , CM000686.2:g.6872564A>G GRCh38
NC_000024.9:g.6740605A>G , CM000686.1:g.6740605A>G GRCh37
NC_000024.8:g.6800605A>G NCBI36
NG_008011.1:g.6464T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000651267.2:c.45T>C MANE Select ENSP00000498344.1:p.Phe15=
ENST00000215479.10:c.45T>C ENSP00000215479.5:p.Phe15=
ENST00000651267.1:c.45T>C ENSP00000498344.1:p.Phe15=
ENST00000215479.9:c.45T>C ENSP00000215479.5:p.Phe15=
ENST00000383036.1:c.45T>C ENSP00000372505.1:p.Phe15=
NM_001143.1:c.45T>C NP_001134.1:p.Phe15=
XM_011531472.1:c.45T>C XP_011529774.1:p.Phe15=
NM_001364814.1:c.45T>C NP_001351743.1:p.Phe15=
NM_001143.2:c.45T>C MANE Select NP_001134.1:p.Phe15=