Canonical Allele Identifier: CA385034968

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701352G>C (hg19) ; chr12:g.53307568G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307568G>C , CM000674.2:g.53307568G>C	GRCh38
NC_000012.11:g.53701352G>C , CM000674.1:g.53701352G>C	GRCh37
NC_000012.10:g.51987619G>C	NCBI36
NG_016775.1:g.19061C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1562C>G MANE Select	ENSP00000209873.4:p.Thr521Arg
ENST00000546562.6:n.2626C>G
ENST00000547238.6:n.2198C>G
ENST00000547520.6:n.1678C>G
ENST00000547757.2:c.*480C>G	ENSP00000448020.2:n.*480C>G
ENST00000548931.6:c.997C>G	ENSP00000457518.1:p.His333Asp
ENST00000549450.6:n.1496C>G
ENST00000672797.1:n.2051C>G
ENST00000209873.8:c.1562C>G	ENSP00000209873.4:p.Thr521Arg
ENST00000394384.7:c.1463C>G	ENSP00000377908.3:p.Thr488Arg
ENST00000548931.5:c.997C>G	ENSP00000457518.1:p.His333Asp
ENST00000550286.5:c.1190C>G	ENSP00000446885.1:p.Thr397Arg
ENST00000552876.5:n.1905C>G
NM_001173466.1:c.1463C>G	NP_001166937.1:p.Thr488Arg
NM_015665.5:c.1562C>G	NP_056480.1:p.Thr521Arg
XM_006719617.2:c.1577C>G	XP_006719680.1:p.Thr526Arg
XM_011538777.1:c.1619C>G	XP_011537079.1:p.Thr540Arg
XM_011538778.1:c.1604C>G	XP_011537080.1:p.Thr535Arg
XM_011538779.1:c.1520C>G	XP_011537081.1:p.Thr507Arg
XM_011538780.1:c.1505C>G	XP_011537082.1:p.Thr502Arg
XM_011538781.1:c.953C>G	XP_011537083.1:p.Thr318Arg
XM_011538778.2:c.1604C>G	XP_011537080.1:p.Thr535Arg
XM_011538780.2:c.1505C>G	XP_011537082.1:p.Thr502Arg
XR_001748875.2:n.1619C>G
NM_015665.6:c.1562C>G MANE Select	NP_056480.1:p.Thr521Arg
NM_001173466.2:c.1463C>G	NP_001166937.1:p.Thr488Arg