Canonical Allele Identifier: CA414969693

Gene: AMELY

Linked Data

• MyVariant Identifiers: chrY:g.6740622G>T (hg19) ; chrY:g.6872581G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.6872581G>T , CM000686.2:g.6872581G>T	GRCh38
NC_000024.9:g.6740622G>T , CM000686.1:g.6740622G>T	GRCh37
NC_000024.8:g.6800622G>T	NCBI36
NG_008011.1:g.6447C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000651267.2:c.28C>A MANE Select	ENSP00000498344.1:p.Leu10Ile
ENST00000215479.10:c.28C>A	ENSP00000215479.5:p.Leu10Ile
ENST00000651267.1:c.28C>A	ENSP00000498344.1:p.Leu10Ile
ENST00000215479.9:c.28C>A	ENSP00000215479.5:p.Leu10Ile
ENST00000383036.1:c.28C>A	ENSP00000372505.1:p.Leu10Ile
NM_001143.1:c.28C>A	NP_001134.1:p.Leu10Ile
XM_011531472.1:c.28C>A	XP_011529774.1:p.Leu10Ile
NM_001364814.1:c.28C>A	NP_001351743.1:p.Leu10Ile
NM_001143.2:c.28C>A MANE Select	NP_001134.1:p.Leu10Ile