Canonical Allele Identifier: CA6598848

Gene: AAAS

Linked Data

• ClinVar Variation Id: 309725
• ClinVar RCV Id: RCV000404477 ; RCV003556319
• dbSNP Id: rs370325323
• ExAC: 12:53701621 G / A
• gnomAD v2: 12-53701621-G-A
• gnomAD v3: 12-53307837-G-A
• gnomAD v4: 12-53307837-G-A
• MyVariant Identifiers: chr12:g.53701621G>A (hg19) ; chr12:g.53307837G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307837G>A , CM000674.2:g.53307837G>A	GRCh38
NC_000012.11:g.53701621G>A , CM000674.1:g.53701621G>A	GRCh37
NC_000012.10:g.51987888G>A	NCBI36
NG_016775.1:g.18792C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1416+8C>T MANE Select	ENSP00000209873.4:n.1416+8C>T
ENST00000546562.6:n.2480+8C>T
ENST00000547238.6:n.2052+8C>T
ENST00000547520.6:n.1532+8C>T
ENST00000547757.2:c.*211C>T	ENSP00000448020.2:n.*211C>T
ENST00000548880.2:n.1866+8C>T
ENST00000548931.6:c.852-124C>T	ENSP00000457518.1:n.852-124C>T
ENST00000549450.6:n.1350+8C>T
ENST00000552161.6:n.2494+8C>T
ENST00000672797.1:n.1905+8C>T
ENST00000209873.8:c.1416+8C>T	ENSP00000209873.4:n.1416+8C>T
ENST00000394384.7:c.1317+8C>T	ENSP00000377908.3:n.1317+8C>T
ENST00000548931.5:c.852-124C>T	ENSP00000457518.1:n.852-124C>T
ENST00000550033.5:n.801C>T
ENST00000550286.5:c.1044+8C>T	ENSP00000446885.1:n.1044+8C>T
ENST00000552876.5:n.1759+8C>T
NM_001173466.1:c.1317+8C>T	NP_001166937.1:n.1317+8C>T
NM_015665.5:c.1416+8C>T	NP_056480.1:n.1416+8C>T
XM_006719617.2:c.1431+8C>T	XP_006719680.1:n.1431+8C>T
XM_011538777.1:c.1473+8C>T	XP_011537079.1:n.1473+8C>T
XM_011538778.1:c.1458+8C>T	XP_011537080.1:n.1458+8C>T
XM_011538779.1:c.1374+8C>T	XP_011537081.1:n.1374+8C>T
XM_011538780.1:c.1359+8C>T	XP_011537082.1:n.1359+8C>T
XM_011538781.1:c.807+8C>T	XP_011537083.1:n.807+8C>T
XM_011538778.2:c.1458+8C>T	XP_011537080.1:n.1458+8C>T
XM_011538780.2:c.1359+8C>T	XP_011537082.1:n.1359+8C>T
XR_001748875.2:n.1473+8C>T
NM_015665.6:c.1416+8C>T MANE Select	NP_056480.1:n.1416+8C>T
NM_001173466.2:c.1317+8C>T	NP_001166937.1:n.1317+8C>T