Canonical Allele Identifier: CA6599073

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309236G>A , CM000674.2:g.53309236G>A	GRCh38
NC_000012.11:g.53703020G>A , CM000674.1:g.53703020G>A	GRCh37
NC_000012.10:g.51989287G>A	NCBI36
NG_016775.1:g.17393C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015665.6:c.856C>T MANE Select	NP_056480.1:p.Arg286Ter
ENST00000209873.9:c.856C>T MANE Select	ENSP00000209873.4:p.Arg286Ter
NM_001173466.1:c.757C>T	NP_001166937.1:p.Arg253Ter
NM_001173466.2:c.757C>T	NP_001166937.1:p.Arg253Ter
NM_015665.5:c.856C>T	NP_056480.1:p.Arg286Ter
ENST00000209873.8:c.856C>T	ENSP00000209873.4:p.Arg286Ter
ENST00000394384.7:c.757C>T	ENSP00000377908.3:p.Arg253Ter
ENST00000546393.6:n.753C>T
ENST00000546393.7:n.1701C>T
ENST00000546562.6:n.1920C>T
ENST00000546572.1:n.308C>T
ENST00000547238.6:n.1492C>T
ENST00000547520.5:n.560C>T
ENST00000547520.6:n.850C>T
ENST00000547757.1:c.757C>T	ENSP00000448020.1:p.Arg253Ter
ENST00000547757.2:c.-96C>T	ENSP00000448020.2:n.-96C>T
ENST00000547761.6:n.748C>T
ENST00000548880.2:n.1306C>T
ENST00000548931.5:c.376C>T	ENSP00000457518.1:p.Arg126Ter
ENST00000548931.6:c.376C>T	ENSP00000457518.1:p.Arg126Ter
ENST00000549450.6:n.790C>T
ENST00000550033.5:n.111C>T
ENST00000550286.5:c.484C>T	ENSP00000446885.1:p.Arg162Ter
ENST00000552161.6:n.1812C>T
ENST00000552876.5:n.1199C>T
ENST00000672797.1:n.1309C>T
ENST00000672900.1:n.1654C>T
XM_006719617.2:c.871C>T	XP_006719680.1:p.Arg291Ter
XM_006719619.2:c.871C>T	XP_006719682.1:p.Arg291Ter
XM_011538777.1:c.871C>T	XP_011537079.1:p.Arg291Ter
XM_011538778.1:c.856C>T	XP_011537080.1:p.Arg286Ter
XM_011538778.2:c.856C>T	XP_011537080.1:p.Arg286Ter
XM_011538779.1:c.772C>T	XP_011537081.1:p.Arg258Ter
XM_011538780.1:c.757C>T	XP_011537082.1:p.Arg253Ter
XM_011538780.2:c.757C>T	XP_011537082.1:p.Arg253Ter
XM_011538781.1:c.205C>T	XP_011537083.1:p.Arg69Ter
XR_001748875.2:n.877C>T