Canonical Allele Identifier: CA6599064

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309191T>A , CM000674.2:g.53309191T>A	GRCh38
NC_000012.11:g.53702975T>A , CM000674.1:g.53702975T>A	GRCh37
NC_000012.10:g.51989242T>A	NCBI36
NG_016775.1:g.17438A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015665.6:c.901A>T MANE Select	NP_056480.1:p.Lys301Ter
ENST00000209873.9:c.901A>T MANE Select	ENSP00000209873.4:p.Lys301Ter
NM_001173466.1:c.802A>T	NP_001166937.1:p.Lys268Ter
NM_001173466.2:c.802A>T	NP_001166937.1:p.Lys268Ter
NM_015665.5:c.901A>T	NP_056480.1:p.Lys301Ter
ENST00000209873.8:c.901A>T	ENSP00000209873.4:p.Lys301Ter
ENST00000394384.7:c.802A>T	ENSP00000377908.3:p.Lys268Ter
ENST00000546393.6:n.798A>T
ENST00000546393.7:n.1746A>T
ENST00000546562.6:n.1965A>T
ENST00000546572.1:n.353A>T
ENST00000547238.6:n.1537A>T
ENST00000547520.5:n.605A>T
ENST00000547520.6:n.895A>T
ENST00000547757.1:c.802A>T	ENSP00000448020.1:p.Lys268Ter
ENST00000547757.2:c.-51A>T	ENSP00000448020.2:n.-51A>T
ENST00000547761.6:n.793A>T
ENST00000548880.2:n.1351A>T
ENST00000548931.5:c.421A>T	ENSP00000457518.1:p.Lys141Ter
ENST00000548931.6:c.421A>T	ENSP00000457518.1:p.Lys141Ter
ENST00000549450.6:n.835A>T
ENST00000550033.5:n.156A>T
ENST00000550286.5:c.529A>T	ENSP00000446885.1:p.Lys177Ter
ENST00000552161.6:n.1857A>T
ENST00000552876.5:n.1244A>T
ENST00000672797.1:n.1354A>T
ENST00000672900.1:n.1699A>T
XM_006719617.2:c.916A>T	XP_006719680.1:p.Lys306Ter
XM_006719619.2:c.916A>T	XP_006719682.1:p.Lys306Ter
XM_011538777.1:c.916A>T	XP_011537079.1:p.Lys306Ter
XM_011538778.1:c.901A>T	XP_011537080.1:p.Lys301Ter
XM_011538778.2:c.901A>T	XP_011537080.1:p.Lys301Ter
XM_011538779.1:c.817A>T	XP_011537081.1:p.Lys273Ter
XM_011538780.1:c.802A>T	XP_011537082.1:p.Lys268Ter
XM_011538780.2:c.802A>T	XP_011537082.1:p.Lys268Ter
XM_011538781.1:c.250A>T	XP_011537083.1:p.Lys84Ter
XR_001748875.2:n.922A>T