Canonical Allele Identifier: CA414969696

Gene: AMELY

Linked Data

• MyVariant Identifiers: chrY:g.6740623G>C (hg19) ; chrY:g.6872582G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.6872582G>C , CM000686.2:g.6872582G>C	GRCh38
NC_000024.9:g.6740623G>C , CM000686.1:g.6740623G>C	GRCh37
NC_000024.8:g.6800623G>C	NCBI36
NG_008011.1:g.6446C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651267.2:c.27C>G MANE Select	ENSP00000498344.1:p.Cys9Trp
ENST00000215479.10:c.27C>G	ENSP00000215479.5:p.Cys9Trp
ENST00000651267.1:c.27C>G	ENSP00000498344.1:p.Cys9Trp
ENST00000215479.9:c.27C>G	ENSP00000215479.5:p.Cys9Trp
ENST00000383036.1:c.27C>G	ENSP00000372505.1:p.Cys9Trp
NM_001143.1:c.27C>G	NP_001134.1:p.Cys9Trp
XM_011531472.1:c.27C>G	XP_011529774.1:p.Cys9Trp
NM_001364814.1:c.27C>G	NP_001351743.1:p.Cys9Trp
NM_001143.2:c.27C>G MANE Select	NP_001134.1:p.Cys9Trp