Canonical Allele Identifier: CA519498515
Gene: AMELY HGNC NCBI

Linked Data

MyVariant Identifiers: chrY:g.6740626G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6872585G>A , CM000686.2:g.6872585G>A GRCh38
NC_000024.9:g.6740626G>A , CM000686.1:g.6740626G>A GRCh37
NC_000024.8:g.6800626G>A NCBI36
NG_008011.1:g.6443C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651267.2:c.24C>T MANE Select ENSP00000498344.1:p.Ala8=
ENST00000215479.10:c.24C>T ENSP00000215479.5:p.Ala8=
ENST00000651267.1:c.24C>T ENSP00000498344.1:p.Ala8=
ENST00000215479.9:c.24C>T ENSP00000215479.5:p.Ala8=
ENST00000383036.1:c.24C>T ENSP00000372505.1:p.Ala8=
NM_001143.1:c.24C>T NP_001134.1:p.Ala8=
XM_011531472.1:c.24C>T XP_011529774.1:p.Ala8=
NM_001364814.1:c.24C>T NP_001351743.1:p.Ala8=
NM_001143.2:c.24C>T MANE Select NP_001134.1:p.Ala8=