Canonical Allele Identifier: CA645286348

Gene: AMELY

Linked Data

• dbSNP Id: rs1464911881
• gnomAD v2: Y-6740553-T-C
• gnomAD v3: Y-6872512-T-C
• gnomAD v4: Y-6872512-T-C
• MyVariant Identifiers: chrY:g.6740553T>C (hg19) ; chrY:g.6872512T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.6872512T>C , CM000686.2:g.6872512T>C	GRCh38
NC_000024.9:g.6740553T>C , CM000686.1:g.6740553T>C	GRCh37
NC_000024.8:g.6800553T>C	NCBI36
NG_008011.1:g.6516A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651267.2:c.54+43A>G MANE Select	ENSP00000498344.1:n.54+43A>G
ENST00000215479.10:c.54+43A>G	ENSP00000215479.5:n.54+43A>G
ENST00000651267.1:c.54+43A>G	ENSP00000498344.1:n.54+43A>G
ENST00000215479.9:c.54+43A>G	ENSP00000215479.5:n.54+43A>G
ENST00000383036.1:c.54+43A>G	ENSP00000372505.1:n.54+43A>G
NM_001143.1:c.54+43A>G	NP_001134.1:n.54+43A>G
XM_011531472.1:c.54+43A>G	XP_011529774.1:n.54+43A>G
NM_001364814.1:c.54+43A>G	NP_001351743.1:n.54+43A>G
NM_001143.2:c.54+43A>G MANE Select	NP_001134.1:n.54+43A>G