Canonical Allele Identifier: CA6598838

Gene: AAAS

Linked Data

• ClinVar Variation Id: 883640
• ClinVar RCV Id: RCV001114236 ; RCV003769139
• dbSNP Id: rs748004231
• ExAC: 12:53701511 A / C
• gnomAD v2: 12-53701511-A-C
• gnomAD v3: 12-53307727-A-C
• gnomAD v4: 12-53307727-A-C
• MyVariant Identifiers: chr12:g.53701511A>C (hg19) ; chr12:g.53307727A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307727A>C , CM000674.2:g.53307727A>C	GRCh38
NC_000012.11:g.53701511A>C , CM000674.1:g.53701511A>C	GRCh37
NC_000012.10:g.51987778A>C	NCBI36
NG_016775.1:g.18902T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1417-14T>G MANE Select	ENSP00000209873.4:n.1417-14T>G
ENST00000546562.6:n.2481-14T>G
ENST00000547238.6:n.2053-14T>G
ENST00000547520.6:n.1533-14T>G
ENST00000547757.2:c.*321T>G	ENSP00000448020.2:n.*321T>G
ENST00000548880.2:n.1867-14T>G
ENST00000548931.6:c.852-14T>G	ENSP00000457518.1:n.852-14T>G
ENST00000549450.6:n.1351-14T>G
ENST00000552161.6:n.2495-14T>G
ENST00000672797.1:n.1906-14T>G
ENST00000209873.8:c.1417-14T>G	ENSP00000209873.4:n.1417-14T>G
ENST00000394384.7:c.1318-14T>G	ENSP00000377908.3:n.1318-14T>G
ENST00000548931.5:c.852-14T>G	ENSP00000457518.1:n.852-14T>G
ENST00000550286.5:c.1045-14T>G	ENSP00000446885.1:n.1045-14T>G
ENST00000552876.5:n.1760-14T>G
NM_001173466.1:c.1318-14T>G	NP_001166937.1:n.1318-14T>G
NM_015665.5:c.1417-14T>G	NP_056480.1:n.1417-14T>G
XM_006719617.2:c.1432-14T>G	XP_006719680.1:n.1432-14T>G
XM_011538777.1:c.1474-14T>G	XP_011537079.1:n.1474-14T>G
XM_011538778.1:c.1459-14T>G	XP_011537080.1:n.1459-14T>G
XM_011538779.1:c.1375-14T>G	XP_011537081.1:n.1375-14T>G
XM_011538780.1:c.1360-14T>G	XP_011537082.1:n.1360-14T>G
XM_011538781.1:c.808-14T>G	XP_011537083.1:n.808-14T>G
XM_011538778.2:c.1459-14T>G	XP_011537080.1:n.1459-14T>G
XM_011538780.2:c.1360-14T>G	XP_011537082.1:n.1360-14T>G
XR_001748875.2:n.1474-14T>G
NM_015665.6:c.1417-14T>G MANE Select	NP_056480.1:n.1417-14T>G
NM_001173466.2:c.1318-14T>G	NP_001166937.1:n.1318-14T>G