Canonical Allele Identifier: CA385035052

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701364A>C (hg19) ; chr12:g.53307580A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307580A>C , CM000674.2:g.53307580A>C	GRCh38
NC_000012.11:g.53701364A>C , CM000674.1:g.53701364A>C	GRCh37
NC_000012.10:g.51987631A>C	NCBI36
NG_016775.1:g.19049T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1550T>G MANE Select	ENSP00000209873.4:p.Leu517Arg
ENST00000546562.6:n.2614T>G
ENST00000547238.6:n.2186T>G
ENST00000547520.6:n.1666T>G
ENST00000547757.2:c.*468T>G	ENSP00000448020.2:n.*468T>G
ENST00000548931.6:c.985T>G	ENSP00000457518.1:p.Ser329Ala
ENST00000549450.6:n.1484T>G
ENST00000672797.1:n.2039T>G
ENST00000209873.8:c.1550T>G	ENSP00000209873.4:p.Leu517Arg
ENST00000394384.7:c.1451T>G	ENSP00000377908.3:p.Leu484Arg
ENST00000548931.5:c.985T>G	ENSP00000457518.1:p.Ser329Ala
ENST00000550286.5:c.1178T>G	ENSP00000446885.1:p.Leu393Arg
ENST00000552876.5:n.1893T>G
NM_001173466.1:c.1451T>G	NP_001166937.1:p.Leu484Arg
NM_015665.5:c.1550T>G	NP_056480.1:p.Leu517Arg
XM_006719617.2:c.1565T>G	XP_006719680.1:p.Leu522Arg
XM_011538777.1:c.1607T>G	XP_011537079.1:p.Leu536Arg
XM_011538778.1:c.1592T>G	XP_011537080.1:p.Leu531Arg
XM_011538779.1:c.1508T>G	XP_011537081.1:p.Leu503Arg
XM_011538780.1:c.1493T>G	XP_011537082.1:p.Leu498Arg
XM_011538781.1:c.941T>G	XP_011537083.1:p.Leu314Arg
XM_011538778.2:c.1592T>G	XP_011537080.1:p.Leu531Arg
XM_011538780.2:c.1493T>G	XP_011537082.1:p.Leu498Arg
XR_001748875.2:n.1607T>G
NM_015665.6:c.1550T>G MANE Select	NP_056480.1:p.Leu517Arg
NM_001173466.2:c.1451T>G	NP_001166937.1:p.Leu484Arg