Canonical Allele Identifier: CA385036779

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701427G>T (hg19) ; chr12:g.53307643G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307643G>T , CM000674.2:g.53307643G>T	GRCh38
NC_000012.11:g.53701427G>T , CM000674.1:g.53701427G>T	GRCh37
NC_000012.10:g.51987694G>T	NCBI36
NG_016775.1:g.18986C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1487C>A MANE Select	ENSP00000209873.4:p.Pro496Gln
ENST00000546562.6:n.2551C>A
ENST00000547238.6:n.2123C>A
ENST00000547520.6:n.1603C>A
ENST00000547757.2:c.*405C>A	ENSP00000448020.2:n.*405C>A
ENST00000548880.2:n.1937C>A
ENST00000548931.6:c.922C>A	ENSP00000457518.1:p.Gln308Lys
ENST00000549450.6:n.1421C>A
ENST00000552161.6:n.2565C>A
ENST00000672797.1:n.1976C>A
ENST00000209873.8:c.1487C>A	ENSP00000209873.4:p.Pro496Gln
ENST00000394384.7:c.1388C>A	ENSP00000377908.3:p.Pro463Gln
ENST00000548931.5:c.922C>A	ENSP00000457518.1:p.Gln308Lys
ENST00000550286.5:c.1115C>A	ENSP00000446885.1:p.Pro372Gln
ENST00000552876.5:n.1830C>A
NM_001173466.1:c.1388C>A	NP_001166937.1:p.Pro463Gln
NM_015665.5:c.1487C>A	NP_056480.1:p.Pro496Gln
XM_006719617.2:c.1502C>A	XP_006719680.1:p.Pro501Gln
XM_011538777.1:c.1544C>A	XP_011537079.1:p.Pro515Gln
XM_011538778.1:c.1529C>A	XP_011537080.1:p.Pro510Gln
XM_011538779.1:c.1445C>A	XP_011537081.1:p.Pro482Gln
XM_011538780.1:c.1430C>A	XP_011537082.1:p.Pro477Gln
XM_011538781.1:c.878C>A	XP_011537083.1:p.Pro293Gln
XM_011538778.2:c.1529C>A	XP_011537080.1:p.Pro510Gln
XM_011538780.2:c.1430C>A	XP_011537082.1:p.Pro477Gln
XR_001748875.2:n.1544C>A
NM_015665.6:c.1487C>A MANE Select	NP_056480.1:p.Pro496Gln
NM_001173466.2:c.1388C>A	NP_001166937.1:p.Pro463Gln