Canonical Allele Identifier: CA385038321

Gene: AAAS

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308052C>T , CM000674.2:g.53308052C>T	GRCh38
NC_000012.11:g.53701836C>T , CM000674.1:g.53701836C>T	GRCh37
NC_000012.10:g.51988103C>T	NCBI36
NG_016775.1:g.18577G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1331G>A MANE Select	ENSP00000209873.4:p.Cys444Tyr
ENST00000546562.6:n.2395G>A
ENST00000547238.6:n.1967G>A
ENST00000547520.6:n.1325G>A
ENST00000547757.2:c.380G>A	ENSP00000448020.2:p.Trp127Ter
ENST00000548880.2:n.1781G>A
ENST00000548931.6:c.851G>A	ENSP00000457518.1:p.Trp284Ter
ENST00000549450.6:n.1265G>A
ENST00000552161.6:n.2287G>A
ENST00000672797.1:n.1820G>A
ENST00000672900.1:n.2421G>A
ENST00000209873.8:c.1331G>A	ENSP00000209873.4:p.Cys444Tyr
ENST00000394384.7:c.1232G>A	ENSP00000377908.3:p.Cys411Tyr
ENST00000548931.5:c.851G>A	ENSP00000457518.1:p.Trp284Ter
ENST00000550033.5:n.586G>A
ENST00000550286.5:c.959G>A	ENSP00000446885.1:p.Cys320Tyr
ENST00000552876.5:n.1674G>A
NM_001173466.1:c.1232G>A	NP_001166937.1:p.Cys411Tyr
NM_015665.5:c.1331G>A	NP_056480.1:p.Cys444Tyr
XM_006719617.2:c.1346G>A	XP_006719680.1:p.Cys449Tyr
XM_011538777.1:c.1346G>A	XP_011537079.1:p.Cys449Tyr
XM_011538778.1:c.1331G>A	XP_011537080.1:p.Cys444Tyr
XM_011538779.1:c.1247G>A	XP_011537081.1:p.Cys416Tyr
XM_011538780.1:c.1232G>A	XP_011537082.1:p.Cys411Tyr
XM_011538781.1:c.680G>A	XP_011537083.1:p.Cys227Tyr
XM_011538778.2:c.1331G>A	XP_011537080.1:p.Cys444Tyr
XM_011538780.2:c.1232G>A	XP_011537082.1:p.Cys411Tyr
XR_001748875.2:n.1388G>A
NM_015665.6:c.1331G>A MANE Select	NP_056480.1:p.Cys444Tyr
NM_001173466.2:c.1232G>A	NP_001166937.1:p.Cys411Tyr