Canonical Allele Identifier: CA6599137

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53314299G>A , CM000674.2:g.53314299G>A	GRCh38
NC_000012.11:g.53708083G>A , CM000674.1:g.53708083G>A	GRCh37
NC_000012.10:g.51994350G>A	NCBI36
NG_016775.1:g.12330C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015665.6:c.688C>T MANE Select	NP_056480.1:p.Arg230Ter
ENST00000209873.9:c.688C>T MANE Select	ENSP00000209873.4:p.Arg230Ter
NM_001173466.1:c.589C>T	NP_001166937.1:p.Arg197Ter
NM_001173466.2:c.589C>T	NP_001166937.1:p.Arg197Ter
NM_015665.5:c.688C>T	NP_056480.1:p.Arg230Ter
ENST00000209873.8:c.688C>T	ENSP00000209873.4:p.Arg230Ter
ENST00000394384.7:c.589C>T	ENSP00000377908.3:p.Arg197Ter
ENST00000546393.6:n.585C>T
ENST00000546393.7:n.1533C>T
ENST00000546562.6:n.1752C>T
ENST00000547238.5:n.1081C>T
ENST00000547238.6:n.1324C>T
ENST00000547520.5:n.392C>T
ENST00000547520.6:n.682C>T
ENST00000547757.1:c.589C>T	ENSP00000448020.1:p.Arg197Ter
ENST00000547757.2:c.-264C>T	ENSP00000448020.2:n.-264C>T
ENST00000547761.6:n.580C>T
ENST00000548880.2:n.1138C>T
ENST00000548931.5:c.208C>T	ENSP00000457518.1:p.Arg70Ter
ENST00000548931.6:c.208C>T	ENSP00000457518.1:p.Arg70Ter
ENST00000549450.6:n.622C>T
ENST00000549983.5:n.711C>T
ENST00000550286.5:c.316C>T	ENSP00000446885.1:p.Arg106Ter
ENST00000552161.6:n.1644C>T
ENST00000552876.5:n.1031C>T
ENST00000672797.1:n.1141C>T
ENST00000672900.1:n.1486C>T
XM_006719617.2:c.703C>T	XP_006719680.1:p.Arg235Ter
XM_006719619.2:c.703C>T	XP_006719682.1:p.Arg235Ter
XM_011538777.1:c.703C>T	XP_011537079.1:p.Arg235Ter
XM_011538778.1:c.688C>T	XP_011537080.1:p.Arg230Ter
XM_011538778.2:c.688C>T	XP_011537080.1:p.Arg230Ter
XM_011538779.1:c.604C>T	XP_011537081.1:p.Arg202Ter
XM_011538780.1:c.589C>T	XP_011537082.1:p.Arg197Ter
XM_011538780.2:c.589C>T	XP_011537082.1:p.Arg197Ter
XR_001748875.2:n.709C>T