Canonical Allele Identifier: CA414969684

Gene: AMELY

Linked Data

• MyVariant Identifiers: chrY:g.6740621A>G (hg19) ; chrY:g.6872580A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.6872580A>G , CM000686.2:g.6872580A>G	GRCh38
NC_000024.9:g.6740621A>G , CM000686.1:g.6740621A>G	GRCh37
NC_000024.8:g.6800621A>G	NCBI36
NG_008011.1:g.6448T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651267.2:c.29T>C MANE Select	ENSP00000498344.1:p.Leu10Pro
ENST00000215479.10:c.29T>C	ENSP00000215479.5:p.Leu10Pro
ENST00000651267.1:c.29T>C	ENSP00000498344.1:p.Leu10Pro
ENST00000215479.9:c.29T>C	ENSP00000215479.5:p.Leu10Pro
ENST00000383036.1:c.29T>C	ENSP00000372505.1:p.Leu10Pro
NM_001143.1:c.29T>C	NP_001134.1:p.Leu10Pro
XM_011531472.1:c.29T>C	XP_011529774.1:p.Leu10Pro
NM_001364814.1:c.29T>C	NP_001351743.1:p.Leu10Pro
NM_001143.2:c.29T>C MANE Select	NP_001134.1:p.Leu10Pro