Canonical Allele Identifier: CA6598892

Gene: AAAS

Linked Data

• ClinVar Variation Id: 309726
• ClinVar RCV Id: RCV000314857 ; RCV002056317
• dbSNP Id: rs112579822
• ExAC: 12:53701866 C / T
• gnomAD v2: 12-53701866-C-T
• gnomAD v3: 12-53308082-C-T
• gnomAD v4: 12-53308082-C-T
• MyVariant Identifiers: chr12:g.53701866C>T (hg19) ; chr12:g.53308082C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308082C>T , CM000674.2:g.53308082C>T	GRCh38
NC_000012.11:g.53701866C>T , CM000674.1:g.53701866C>T	GRCh37
NC_000012.10:g.51988133C>T	NCBI36
NG_016775.1:g.18547G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1301G>A MANE Select	ENSP00000209873.4:p.Arg434Gln
ENST00000546562.6:n.2365G>A
ENST00000547238.6:n.1937G>A
ENST00000547520.6:n.1295G>A
ENST00000547757.2:c.350G>A	ENSP00000448020.2:p.Arg117Gln
ENST00000548880.2:n.1751G>A
ENST00000548931.6:c.821G>A	ENSP00000457518.1:p.Arg274Gln
ENST00000549450.6:n.1235G>A
ENST00000552161.6:n.2257G>A
ENST00000672797.1:n.1790G>A
ENST00000672900.1:n.2391G>A
ENST00000209873.8:c.1301G>A	ENSP00000209873.4:p.Arg434Gln
ENST00000394384.7:c.1202G>A	ENSP00000377908.3:p.Arg401Gln
ENST00000548931.5:c.821G>A	ENSP00000457518.1:p.Arg274Gln
ENST00000550033.5:n.556G>A
ENST00000550286.5:c.929G>A	ENSP00000446885.1:p.Arg310Gln
ENST00000552876.5:n.1644G>A
NM_001173466.1:c.1202G>A	NP_001166937.1:p.Arg401Gln
NM_015665.5:c.1301G>A	NP_056480.1:p.Arg434Gln
XM_006719617.2:c.1316G>A	XP_006719680.1:p.Arg439Gln
XM_011538777.1:c.1316G>A	XP_011537079.1:p.Arg439Gln
XM_011538778.1:c.1301G>A	XP_011537080.1:p.Arg434Gln
XM_011538779.1:c.1217G>A	XP_011537081.1:p.Arg406Gln
XM_011538780.1:c.1202G>A	XP_011537082.1:p.Arg401Gln
XM_011538781.1:c.650G>A	XP_011537083.1:p.Arg217Gln
XM_011538778.2:c.1301G>A	XP_011537080.1:p.Arg434Gln
XM_011538780.2:c.1202G>A	XP_011537082.1:p.Arg401Gln
XR_001748875.2:n.1358G>A
NM_015665.6:c.1301G>A MANE Select	NP_056480.1:p.Arg434Gln
NM_001173466.2:c.1202G>A	NP_001166937.1:p.Arg401Gln