Canonical Allele Identifier: CA385041293

Gene: AAAS

Linked Data

• gnomAD v4: 12-53308994-C-T
• MyVariant Identifiers: chr12:g.53702778C>T (hg19) ; chr12:g.53308994C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308994C>T , CM000674.2:g.53308994C>T	GRCh38
NC_000012.11:g.53702778C>T , CM000674.1:g.53702778C>T	GRCh37
NC_000012.10:g.51989045C>T	NCBI36
NG_016775.1:g.17635G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.962G>A MANE Select	ENSP00000209873.4:p.Cys321Tyr
ENST00000546393.7:n.1807G>A
ENST00000546562.6:n.2026G>A
ENST00000547238.6:n.1598G>A
ENST00000547520.6:n.956G>A
ENST00000547757.2:c.11G>A	ENSP00000448020.2:p.Cys4Tyr
ENST00000548880.2:n.1412G>A
ENST00000548931.6:c.482G>A	ENSP00000457518.1:p.Cys161Tyr
ENST00000549450.6:n.896G>A
ENST00000552161.6:n.1918G>A
ENST00000672797.1:n.1415G>A
ENST00000672900.1:n.1760G>A
ENST00000209873.8:c.962G>A	ENSP00000209873.4:p.Cys321Tyr
ENST00000394384.7:c.863G>A	ENSP00000377908.3:p.Cys288Tyr
ENST00000546572.1:n.550G>A
ENST00000547520.5:n.666G>A
ENST00000548931.5:c.482G>A	ENSP00000457518.1:p.Cys161Tyr
ENST00000550033.5:n.217G>A
ENST00000550286.5:c.590G>A	ENSP00000446885.1:p.Cys197Tyr
ENST00000552876.5:n.1305G>A
NM_001173466.1:c.863G>A	NP_001166937.1:p.Cys288Tyr
NM_015665.5:c.962G>A	NP_056480.1:p.Cys321Tyr
XM_006719617.2:c.977G>A	XP_006719680.1:p.Cys326Tyr
XM_006719619.2:c.977G>A	XP_006719682.1:p.Cys326Tyr
XM_011538777.1:c.977G>A	XP_011537079.1:p.Cys326Tyr
XM_011538778.1:c.962G>A	XP_011537080.1:p.Cys321Tyr
XM_011538779.1:c.878G>A	XP_011537081.1:p.Cys293Tyr
XM_011538780.1:c.863G>A	XP_011537082.1:p.Cys288Tyr
XM_011538781.1:c.311G>A	XP_011537083.1:p.Cys104Tyr
XM_011538778.2:c.962G>A	XP_011537080.1:p.Cys321Tyr
XM_011538780.2:c.863G>A	XP_011537082.1:p.Cys288Tyr
XR_001748875.2:n.983G>A
NM_015665.6:c.962G>A MANE Select	NP_056480.1:p.Cys321Tyr
NM_001173466.2:c.863G>A	NP_001166937.1:p.Cys288Tyr