Canonical Allele Identifier: CA385037337

Gene: AAAS

Linked Data

• dbSNP Id: rs1408523843
• gnomAD v2: 12-53701479-T-C
• gnomAD v4: 12-53307695-T-C
• MyVariant Identifiers: chr12:g.53701479T>C (hg19) ; chr12:g.53307695T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307695T>C , CM000674.2:g.53307695T>C	GRCh38
NC_000012.11:g.53701479T>C , CM000674.1:g.53701479T>C	GRCh37
NC_000012.10:g.51987746T>C	NCBI36
NG_016775.1:g.18934A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1435A>G MANE Select	ENSP00000209873.4:p.Ile479Val
ENST00000546562.6:n.2499A>G
ENST00000547238.6:n.2071A>G
ENST00000547520.6:n.1551A>G
ENST00000547757.2:c.*353A>G	ENSP00000448020.2:n.*353A>G
ENST00000548880.2:n.1885A>G
ENST00000548931.6:c.870A>G	ENSP00000457518.1:p.Glu290=
ENST00000549450.6:n.1369A>G
ENST00000552161.6:n.2513A>G
ENST00000672797.1:n.1924A>G
ENST00000209873.8:c.1435A>G	ENSP00000209873.4:p.Ile479Val
ENST00000394384.7:c.1336A>G	ENSP00000377908.3:p.Ile446Val
ENST00000548931.5:c.870A>G	ENSP00000457518.1:p.Glu290=
ENST00000550286.5:c.1063A>G	ENSP00000446885.1:p.Ile355Val
ENST00000552876.5:n.1778A>G
NM_001173466.1:c.1336A>G	NP_001166937.1:p.Ile446Val
NM_015665.5:c.1435A>G	NP_056480.1:p.Ile479Val
XM_006719617.2:c.1450A>G	XP_006719680.1:p.Ile484Val
XM_011538777.1:c.1492A>G	XP_011537079.1:p.Ile498Val
XM_011538778.1:c.1477A>G	XP_011537080.1:p.Ile493Val
XM_011538779.1:c.1393A>G	XP_011537081.1:p.Ile465Val
XM_011538780.1:c.1378A>G	XP_011537082.1:p.Ile460Val
XM_011538781.1:c.826A>G	XP_011537083.1:p.Ile276Val
XM_011538778.2:c.1477A>G	XP_011537080.1:p.Ile493Val
XM_011538780.2:c.1378A>G	XP_011537082.1:p.Ile460Val
XR_001748875.2:n.1492A>G
NM_015665.6:c.1435A>G MANE Select	NP_056480.1:p.Ile479Val
NM_001173466.2:c.1336A>G	NP_001166937.1:p.Ile446Val