Canonical Allele Identifier: CA385037278

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701473G>T (hg19) ; chr12:g.53307689G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307689G>T , CM000674.2:g.53307689G>T	GRCh38
NC_000012.11:g.53701473G>T , CM000674.1:g.53701473G>T	GRCh37
NC_000012.10:g.51987740G>T	NCBI36
NG_016775.1:g.18940C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1441C>A MANE Select	ENSP00000209873.4:p.His481Asn
ENST00000546562.6:n.2505C>A
ENST00000547238.6:n.2077C>A
ENST00000547520.6:n.1557C>A
ENST00000547757.2:c.*359C>A	ENSP00000448020.2:n.*359C>A
ENST00000548880.2:n.1891C>A
ENST00000548931.6:c.876C>A	ENSP00000457518.1:p.Pro292=
ENST00000549450.6:n.1375C>A
ENST00000552161.6:n.2519C>A
ENST00000672797.1:n.1930C>A
ENST00000209873.8:c.1441C>A	ENSP00000209873.4:p.His481Asn
ENST00000394384.7:c.1342C>A	ENSP00000377908.3:p.His448Asn
ENST00000548931.5:c.876C>A	ENSP00000457518.1:p.Pro292=
ENST00000550286.5:c.1069C>A	ENSP00000446885.1:p.His357Asn
ENST00000552876.5:n.1784C>A
NM_001173466.1:c.1342C>A	NP_001166937.1:p.His448Asn
NM_015665.5:c.1441C>A	NP_056480.1:p.His481Asn
XM_006719617.2:c.1456C>A	XP_006719680.1:p.His486Asn
XM_011538777.1:c.1498C>A	XP_011537079.1:p.His500Asn
XM_011538778.1:c.1483C>A	XP_011537080.1:p.His495Asn
XM_011538779.1:c.1399C>A	XP_011537081.1:p.His467Asn
XM_011538780.1:c.1384C>A	XP_011537082.1:p.His462Asn
XM_011538781.1:c.832C>A	XP_011537083.1:p.His278Asn
XM_011538778.2:c.1483C>A	XP_011537080.1:p.His495Asn
XM_011538780.2:c.1384C>A	XP_011537082.1:p.His462Asn
XR_001748875.2:n.1498C>A
NM_015665.6:c.1441C>A MANE Select	NP_056480.1:p.His481Asn
NM_001173466.2:c.1342C>A	NP_001166937.1:p.His448Asn