Canonical Allele Identifier: CA519496012
Gene: AMELY HGNC NCBI

Linked Data

MyVariant Identifiers: chrY:g.6736084C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6868043C>T , CM000686.2:g.6868043C>T GRCh38
NC_000024.9:g.6736084C>T , CM000686.1:g.6736084C>T GRCh37
NC_000024.8:g.6796084C>T NCBI36
NG_008011.1:g.10985G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000651267.2:c.567G>A MANE Select ENSP00000498344.1:p.Glu189=
ENST00000215479.10:c.567G>A ENSP00000215479.5:p.Glu189=
ENST00000651267.1:c.567G>A ENSP00000498344.1:p.Glu189=
ENST00000215479.9:c.567G>A ENSP00000215479.5:p.Glu189=
ENST00000383036.1:c.609G>A ENSP00000372505.1:p.Glu203=
NM_001143.1:c.567G>A NP_001134.1:p.Glu189=
XM_011531472.1:c.609G>A XP_011529774.1:p.Glu203=
NM_001364814.1:c.609G>A NP_001351743.1:p.Glu203=
NM_001143.2:c.567G>A MANE Select NP_001134.1:p.Glu189=