Canonical Allele Identifier: CA414969724

Gene: AMELY

Linked Data

• COSMIC: COSM318666
• MyVariant Identifiers: chrY:g.6740628C>A (hg19) ; chrY:g.6872587C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.6872587C>A , CM000686.2:g.6872587C>A	GRCh38
NC_000024.9:g.6740628C>A , CM000686.1:g.6740628C>A	GRCh37
NC_000024.8:g.6800628C>A	NCBI36
NG_008011.1:g.6441G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651267.2:c.22G>T MANE Select	ENSP00000498344.1:p.Ala8Ser
ENST00000215479.10:c.22G>T	ENSP00000215479.5:p.Ala8Ser
ENST00000651267.1:c.22G>T	ENSP00000498344.1:p.Ala8Ser
ENST00000215479.9:c.22G>T	ENSP00000215479.5:p.Ala8Ser
ENST00000383036.1:c.22G>T	ENSP00000372505.1:p.Ala8Ser
NM_001143.1:c.22G>T	NP_001134.1:p.Ala8Ser
XM_011531472.1:c.22G>T	XP_011529774.1:p.Ala8Ser
NM_001364814.1:c.22G>T	NP_001351743.1:p.Ala8Ser
NM_001143.2:c.22G>T MANE Select	NP_001134.1:p.Ala8Ser