Canonical Allele Identifier: CA385034776

Gene: AAAS

Linked Data

• gnomAD v4: 12-53307545-C-A
• MyVariant Identifiers: chr12:g.53701329C>A (hg19) ; chr12:g.53307545C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307545C>A , CM000674.2:g.53307545C>A	GRCh38
NC_000012.11:g.53701329C>A , CM000674.1:g.53701329C>A	GRCh37
NC_000012.10:g.51987596C>A	NCBI36
NG_016775.1:g.19084G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1585G>T MANE Select	ENSP00000209873.4:p.Asp529Tyr
ENST00000546562.6:n.2649G>T
ENST00000547238.6:n.2221G>T
ENST00000547520.6:n.1701G>T
ENST00000547757.2:c.*503G>T	ENSP00000448020.2:n.*503G>T
ENST00000548931.6:c.1020G>T	ENSP00000457518.1:p.Gly340=
ENST00000549450.6:n.1519G>T
ENST00000672797.1:n.2074G>T
ENST00000209873.8:c.1585G>T	ENSP00000209873.4:p.Asp529Tyr
ENST00000394384.7:c.1486G>T	ENSP00000377908.3:p.Asp496Tyr
ENST00000548931.5:c.1020G>T	ENSP00000457518.1:p.Gly340=
ENST00000550286.5:c.1213G>T	ENSP00000446885.1:p.Asp405Tyr
ENST00000552876.5:n.1928G>T
NM_001173466.1:c.1486G>T	NP_001166937.1:p.Asp496Tyr
NM_015665.5:c.1585G>T	NP_056480.1:p.Asp529Tyr
XM_006719617.2:c.1600G>T	XP_006719680.1:p.Asp534Tyr
XM_011538777.1:c.1642G>T	XP_011537079.1:p.Asp548Tyr
XM_011538778.1:c.1627G>T	XP_011537080.1:p.Asp543Tyr
XM_011538779.1:c.1543G>T	XP_011537081.1:p.Asp515Tyr
XM_011538780.1:c.1528G>T	XP_011537082.1:p.Asp510Tyr
XM_011538781.1:c.976G>T	XP_011537083.1:p.Asp326Tyr
XM_011538778.2:c.1627G>T	XP_011537080.1:p.Asp543Tyr
XM_011538780.2:c.1528G>T	XP_011537082.1:p.Asp510Tyr
XR_001748875.2:n.1642G>T
NM_015665.6:c.1585G>T MANE Select	NP_056480.1:p.Asp529Tyr
NM_001173466.2:c.1486G>T	NP_001166937.1:p.Asp496Tyr