Canonical Allele Identifier: CA880386136

Gene: AMELY

Linked Data

• dbSNP Id: rs1160978481
• MyVariant Identifiers: chrY:g.6740882C>G (hg19) ; chrY:g.6872841C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.6872841C>G , CM000686.2:g.6872841C>G	GRCh38
NC_000024.9:g.6740882C>G , CM000686.1:g.6740882C>G	GRCh37
NC_000024.8:g.6800882C>G	NCBI36
NG_008011.1:g.6187G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651267.2:c.-12-221G>C MANE Select	ENSP00000498344.1:n.-12-221G>C
ENST00000215479.10:c.-12-221G>C	ENSP00000215479.5:n.-12-221G>C
ENST00000651267.1:c.-12-221G>C	ENSP00000498344.1:n.-12-221G>C
ENST00000215479.9:c.-12-221G>C	ENSP00000215479.5:n.-12-221G>C
NM_001143.1:c.-12-221G>C	NP_001134.1:n.-12-221G>C
XM_011531472.1:c.-12-221G>C	XP_011529774.1:n.-12-221G>C
NM_001364814.1:c.-12-221G>C	NP_001351743.1:n.-12-221G>C
NM_001143.2:c.-12-221G>C MANE Select	NP_001134.1:n.-12-221G>C