Canonical Allele Identifier: CA385034977

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701353T>C (hg19) ; chr12:g.53307569T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307569T>C , CM000674.2:g.53307569T>C	GRCh38
NC_000012.11:g.53701353T>C , CM000674.1:g.53701353T>C	GRCh37
NC_000012.10:g.51987620T>C	NCBI36
NG_016775.1:g.19060A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1561A>G MANE Select	ENSP00000209873.4:p.Thr521Ala
ENST00000546562.6:n.2625A>G
ENST00000547238.6:n.2197A>G
ENST00000547520.6:n.1677A>G
ENST00000547757.2:c.*479A>G	ENSP00000448020.2:n.*479A>G
ENST00000548931.6:c.996A>G	ENSP00000457518.1:p.Arg332=
ENST00000549450.6:n.1495A>G
ENST00000672797.1:n.2050A>G
ENST00000209873.8:c.1561A>G	ENSP00000209873.4:p.Thr521Ala
ENST00000394384.7:c.1462A>G	ENSP00000377908.3:p.Thr488Ala
ENST00000548931.5:c.996A>G	ENSP00000457518.1:p.Arg332=
ENST00000550286.5:c.1189A>G	ENSP00000446885.1:p.Thr397Ala
ENST00000552876.5:n.1904A>G
NM_001173466.1:c.1462A>G	NP_001166937.1:p.Thr488Ala
NM_015665.5:c.1561A>G	NP_056480.1:p.Thr521Ala
XM_006719617.2:c.1576A>G	XP_006719680.1:p.Thr526Ala
XM_011538777.1:c.1618A>G	XP_011537079.1:p.Thr540Ala
XM_011538778.1:c.1603A>G	XP_011537080.1:p.Thr535Ala
XM_011538779.1:c.1519A>G	XP_011537081.1:p.Thr507Ala
XM_011538780.1:c.1504A>G	XP_011537082.1:p.Thr502Ala
XM_011538781.1:c.952A>G	XP_011537083.1:p.Thr318Ala
XM_011538778.2:c.1603A>G	XP_011537080.1:p.Thr535Ala
XM_011538780.2:c.1504A>G	XP_011537082.1:p.Thr502Ala
XR_001748875.2:n.1618A>G
NM_015665.6:c.1561A>G MANE Select	NP_056480.1:p.Thr521Ala
NM_001173466.2:c.1462A>G	NP_001166937.1:p.Thr488Ala