Canonical Allele Identifier: CA6599257

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53315379G>A , CM000674.2:g.53315379G>A	GRCh38
NC_000012.11:g.53709163G>A , CM000674.1:g.53709163G>A	GRCh37
NC_000012.10:g.51995430G>A	NCBI36
NG_016775.1:g.11250C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015665.6:c.355C>T MANE Select	NP_056480.1:p.Arg119Ter
ENST00000209873.9:c.355C>T MANE Select	ENSP00000209873.4:p.Arg119Ter
NM_001173466.1:c.355C>T	NP_001166937.1:p.Arg119Ter
NM_001173466.2:c.355C>T	NP_001166937.1:p.Arg119Ter
NM_015665.5:c.355C>T	NP_056480.1:p.Arg119Ter
ENST00000209873.8:c.355C>T	ENSP00000209873.4:p.Arg119Ter
ENST00000394384.7:c.355C>T	ENSP00000377908.3:p.Arg119Ter
ENST00000546393.7:n.453C>T
ENST00000546562.6:n.672C>T
ENST00000547238.5:n.748C>T
ENST00000547238.6:n.797C>T
ENST00000547520.6:n.349C>T
ENST00000547757.1:c.355C>T	ENSP00000448020.1:p.Arg119Ter
ENST00000547757.2:c.-498C>T	ENSP00000448020.2:n.-498C>T
ENST00000547761.6:n.292-239C>T
ENST00000548258.5:n.383C>T
ENST00000548880.2:n.805C>T
ENST00000549450.5:n.349C>T
ENST00000549450.6:n.289C>T
ENST00000549821.5:n.353C>T
ENST00000549983.5:n.378C>T
ENST00000550286.5:c.28-239C>T	ENSP00000446885.1:n.28-239C>T
ENST00000551724.5:n.405C>T
ENST00000552161.5:n.450C>T
ENST00000552161.6:n.1117C>T
ENST00000552876.5:n.797C>T
ENST00000672797.1:n.808C>T
ENST00000672900.1:n.406C>T
XM_006719617.2:c.370C>T	XP_006719680.1:p.Arg124Ter
XM_006719619.2:c.370C>T	XP_006719682.1:p.Arg124Ter
XM_011538777.1:c.370C>T	XP_011537079.1:p.Arg124Ter
XM_011538778.1:c.355C>T	XP_011537080.1:p.Arg119Ter
XM_011538778.2:c.355C>T	XP_011537080.1:p.Arg119Ter
XM_011538779.1:c.370C>T	XP_011537081.1:p.Arg124Ter
XM_011538780.1:c.355C>T	XP_011537082.1:p.Arg119Ter
XM_011538780.2:c.355C>T	XP_011537082.1:p.Arg119Ter
XR_001748875.2:n.475C>T