Canonical Allele Identifier: CA385035279

Gene: AAAS

Linked Data

• ClinVar Variation Id: 3122918
• ClinVar RCV Id: RCV004416306
• dbSNP Id: rs769964818
• gnomAD v2: 12-53701397-G-A
• gnomAD v4: 12-53307613-G-A
• MyVariant Identifiers: chr12:g.53701397G>A (hg19) ; chr12:g.53307613G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307613G>A , CM000674.2:g.53307613G>A	GRCh38
NC_000012.11:g.53701397G>A , CM000674.1:g.53701397G>A	GRCh37
NC_000012.10:g.51987664G>A	NCBI36
NG_016775.1:g.19016C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1517C>T MANE Select	ENSP00000209873.4:p.Ala506Val
ENST00000546562.6:n.2581C>T
ENST00000547238.6:n.2153C>T
ENST00000547520.6:n.1633C>T
ENST00000547757.2:c.*435C>T	ENSP00000448020.2:n.*435C>T
ENST00000548931.6:c.952C>T	ENSP00000457518.1:p.Leu318=
ENST00000549450.6:n.1451C>T
ENST00000672797.1:n.2006C>T
ENST00000209873.8:c.1517C>T	ENSP00000209873.4:p.Ala506Val
ENST00000394384.7:c.1418C>T	ENSP00000377908.3:p.Ala473Val
ENST00000548931.5:c.952C>T	ENSP00000457518.1:p.Leu318=
ENST00000550286.5:c.1145C>T	ENSP00000446885.1:p.Ala382Val
ENST00000552876.5:n.1860C>T
NM_001173466.1:c.1418C>T	NP_001166937.1:p.Ala473Val
NM_015665.5:c.1517C>T	NP_056480.1:p.Ala506Val
XM_006719617.2:c.1532C>T	XP_006719680.1:p.Ala511Val
XM_011538777.1:c.1574C>T	XP_011537079.1:p.Ala525Val
XM_011538778.1:c.1559C>T	XP_011537080.1:p.Ala520Val
XM_011538779.1:c.1475C>T	XP_011537081.1:p.Ala492Val
XM_011538780.1:c.1460C>T	XP_011537082.1:p.Ala487Val
XM_011538781.1:c.908C>T	XP_011537083.1:p.Ala303Val
XM_011538778.2:c.1559C>T	XP_011537080.1:p.Ala520Val
XM_011538780.2:c.1460C>T	XP_011537082.1:p.Ala487Val
XR_001748875.2:n.1574C>T
NM_015665.6:c.1517C>T MANE Select	NP_056480.1:p.Ala506Val
NM_001173466.2:c.1418C>T	NP_001166937.1:p.Ala473Val