Canonical Allele Identifier: CA385041021

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702748C>T (hg19) ; chr12:g.53308964C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308964C>T , CM000674.2:g.53308964C>T	GRCh38
NC_000012.11:g.53702748C>T , CM000674.1:g.53702748C>T	GRCh37
NC_000012.10:g.51989015C>T	NCBI36
NG_016775.1:g.17665G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.992G>A MANE Select	ENSP00000209873.4:p.Cys331Tyr
ENST00000546393.7:n.1837G>A
ENST00000546562.6:n.2056G>A
ENST00000547238.6:n.1628G>A
ENST00000547520.6:n.986G>A
ENST00000547757.2:c.41G>A	ENSP00000448020.2:p.Cys14Tyr
ENST00000548880.2:n.1442G>A
ENST00000548931.6:c.512G>A	ENSP00000457518.1:p.Cys171Tyr
ENST00000549450.6:n.926G>A
ENST00000552161.6:n.1948G>A
ENST00000672797.1:n.1445G>A
ENST00000672900.1:n.1790G>A
ENST00000209873.8:c.992G>A	ENSP00000209873.4:p.Cys331Tyr
ENST00000394384.7:c.893G>A	ENSP00000377908.3:p.Cys298Tyr
ENST00000546572.1:n.580G>A
ENST00000547520.5:n.696G>A
ENST00000548931.5:c.512G>A	ENSP00000457518.1:p.Cys171Tyr
ENST00000550033.5:n.247G>A
ENST00000550286.5:c.620G>A	ENSP00000446885.1:p.Cys207Tyr
ENST00000552876.5:n.1335G>A
NM_001173466.1:c.893G>A	NP_001166937.1:p.Cys298Tyr
NM_015665.5:c.992G>A	NP_056480.1:p.Cys331Tyr
XM_006719617.2:c.1007G>A	XP_006719680.1:p.Cys336Tyr
XM_006719619.2:c.1007G>A	XP_006719682.1:p.Cys336Tyr
XM_011538777.1:c.1007G>A	XP_011537079.1:p.Cys336Tyr
XM_011538778.1:c.992G>A	XP_011537080.1:p.Cys331Tyr
XM_011538779.1:c.908G>A	XP_011537081.1:p.Cys303Tyr
XM_011538780.1:c.893G>A	XP_011537082.1:p.Cys298Tyr
XM_011538781.1:c.341G>A	XP_011537083.1:p.Cys114Tyr
XM_011538778.2:c.992G>A	XP_011537080.1:p.Cys331Tyr
XM_011538780.2:c.893G>A	XP_011537082.1:p.Cys298Tyr
XR_001748875.2:n.1013G>A
NM_015665.6:c.992G>A MANE Select	NP_056480.1:p.Cys331Tyr
NM_001173466.2:c.893G>A	NP_001166937.1:p.Cys298Tyr