Canonical Allele Identifier: CA519498546
Gene: AMELY HGNC NCBI

Linked Data

MyVariant Identifiers: chrY:g.6740635A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6872594A>G , CM000686.2:g.6872594A>G GRCh38
NC_000024.9:g.6740635A>G , CM000686.1:g.6740635A>G GRCh37
NC_000024.8:g.6800635A>G NCBI36
NG_008011.1:g.6434T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651267.2:c.15T>C MANE Select ENSP00000498344.1:p.Ile5=
ENST00000215479.10:c.15T>C ENSP00000215479.5:p.Ile5=
ENST00000651267.1:c.15T>C ENSP00000498344.1:p.Ile5=
ENST00000215479.9:c.15T>C ENSP00000215479.5:p.Ile5=
ENST00000383036.1:c.15T>C ENSP00000372505.1:p.Ile5=
NM_001143.1:c.15T>C NP_001134.1:p.Ile5=
XM_011531472.1:c.15T>C XP_011529774.1:p.Ile5=
NM_001364814.1:c.15T>C NP_001351743.1:p.Ile5=
NM_001143.2:c.15T>C MANE Select NP_001134.1:p.Ile5=