Canonical Allele Identifier: CA385037262

Gene: AAAS

Linked Data

• gnomAD v4: 12-53307687-G-T
• MyVariant Identifiers: chr12:g.53701471G>T (hg19) ; chr12:g.53307687G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307687G>T , CM000674.2:g.53307687G>T	GRCh38
NC_000012.11:g.53701471G>T , CM000674.1:g.53701471G>T	GRCh37
NC_000012.10:g.51987738G>T	NCBI36
NG_016775.1:g.18942C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1443C>A MANE Select	ENSP00000209873.4:p.His481Gln
ENST00000546562.6:n.2507C>A
ENST00000547238.6:n.2079C>A
ENST00000547520.6:n.1559C>A
ENST00000547757.2:c.*361C>A	ENSP00000448020.2:n.*361C>A
ENST00000548880.2:n.1893C>A
ENST00000548931.6:c.878C>A	ENSP00000457518.1:p.Thr293Lys
ENST00000549450.6:n.1377C>A
ENST00000552161.6:n.2521C>A
ENST00000672797.1:n.1932C>A
ENST00000209873.8:c.1443C>A	ENSP00000209873.4:p.His481Gln
ENST00000394384.7:c.1344C>A	ENSP00000377908.3:p.His448Gln
ENST00000548931.5:c.878C>A	ENSP00000457518.1:p.Thr293Lys
ENST00000550286.5:c.1071C>A	ENSP00000446885.1:p.His357Gln
ENST00000552876.5:n.1786C>A
NM_001173466.1:c.1344C>A	NP_001166937.1:p.His448Gln
NM_015665.5:c.1443C>A	NP_056480.1:p.His481Gln
XM_006719617.2:c.1458C>A	XP_006719680.1:p.His486Gln
XM_011538777.1:c.1500C>A	XP_011537079.1:p.His500Gln
XM_011538778.1:c.1485C>A	XP_011537080.1:p.His495Gln
XM_011538779.1:c.1401C>A	XP_011537081.1:p.His467Gln
XM_011538780.1:c.1386C>A	XP_011537082.1:p.His462Gln
XM_011538781.1:c.834C>A	XP_011537083.1:p.His278Gln
XM_011538778.2:c.1485C>A	XP_011537080.1:p.His495Gln
XM_011538780.2:c.1386C>A	XP_011537082.1:p.His462Gln
XR_001748875.2:n.1500C>A
NM_015665.6:c.1443C>A MANE Select	NP_056480.1:p.His481Gln
NM_001173466.2:c.1344C>A	NP_001166937.1:p.His448Gln