Canonical Allele Identifier: CA385035348

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701409T>G (hg19) ; chr12:g.53307625T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307625T>G , CM000674.2:g.53307625T>G	GRCh38
NC_000012.11:g.53701409T>G , CM000674.1:g.53701409T>G	GRCh37
NC_000012.10:g.51987676T>G	NCBI36
NG_016775.1:g.19004A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1505A>C MANE Select	ENSP00000209873.4:p.Gln502Pro
ENST00000546562.6:n.2569A>C
ENST00000547238.6:n.2141A>C
ENST00000547520.6:n.1621A>C
ENST00000547757.2:c.*423A>C	ENSP00000448020.2:n.*423A>C
ENST00000548931.6:c.940A>C	ENSP00000457518.1:p.Arg314=
ENST00000549450.6:n.1439A>C
ENST00000672797.1:n.1994A>C
ENST00000209873.8:c.1505A>C	ENSP00000209873.4:p.Gln502Pro
ENST00000394384.7:c.1406A>C	ENSP00000377908.3:p.Gln469Pro
ENST00000548931.5:c.940A>C	ENSP00000457518.1:p.Arg314=
ENST00000550286.5:c.1133A>C	ENSP00000446885.1:p.Gln378Pro
ENST00000552876.5:n.1848A>C
NM_001173466.1:c.1406A>C	NP_001166937.1:p.Gln469Pro
NM_015665.5:c.1505A>C	NP_056480.1:p.Gln502Pro
XM_006719617.2:c.1520A>C	XP_006719680.1:p.Gln507Pro
XM_011538777.1:c.1562A>C	XP_011537079.1:p.Gln521Pro
XM_011538778.1:c.1547A>C	XP_011537080.1:p.Gln516Pro
XM_011538779.1:c.1463A>C	XP_011537081.1:p.Gln488Pro
XM_011538780.1:c.1448A>C	XP_011537082.1:p.Gln483Pro
XM_011538781.1:c.896A>C	XP_011537083.1:p.Gln299Pro
XM_011538778.2:c.1547A>C	XP_011537080.1:p.Gln516Pro
XM_011538780.2:c.1448A>C	XP_011537082.1:p.Gln483Pro
XR_001748875.2:n.1562A>C
NM_015665.6:c.1505A>C MANE Select	NP_056480.1:p.Gln502Pro
NM_001173466.2:c.1406A>C	NP_001166937.1:p.Gln469Pro