Canonical Allele Identifier: CA385042077

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309241C>T , CM000674.2:g.53309241C>T	GRCh38
NC_000012.11:g.53703025C>T , CM000674.1:g.53703025C>T	GRCh37
NC_000012.10:g.51989292C>T	NCBI36
NG_016775.1:g.17388G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015665.6:c.851G>A MANE Select	NP_056480.1:p.Trp284Ter
ENST00000209873.9:c.851G>A MANE Select	ENSP00000209873.4:p.Trp284Ter
NM_001173466.1:c.752G>A	NP_001166937.1:p.Trp251Ter
NM_001173466.2:c.752G>A	NP_001166937.1:p.Trp251Ter
NM_015665.5:c.851G>A	NP_056480.1:p.Trp284Ter
ENST00000209873.8:c.851G>A	ENSP00000209873.4:p.Trp284Ter
ENST00000394384.7:c.752G>A	ENSP00000377908.3:p.Trp251Ter
ENST00000546393.6:n.748G>A
ENST00000546393.7:n.1696G>A
ENST00000546562.6:n.1915G>A
ENST00000546572.1:n.303G>A
ENST00000547238.6:n.1487G>A
ENST00000547520.5:n.555G>A
ENST00000547520.6:n.845G>A
ENST00000547757.1:c.752G>A	ENSP00000448020.1:p.Trp251Ter
ENST00000547757.2:c.-101G>A	ENSP00000448020.2:n.-101G>A
ENST00000547761.6:n.743G>A
ENST00000548880.2:n.1301G>A
ENST00000548931.5:c.371G>A	ENSP00000457518.1:p.Trp124Ter
ENST00000548931.6:c.371G>A	ENSP00000457518.1:p.Trp124Ter
ENST00000549450.6:n.785G>A
ENST00000550033.5:n.106G>A
ENST00000550286.5:c.479G>A	ENSP00000446885.1:p.Trp160Ter
ENST00000552161.6:n.1807G>A
ENST00000552876.5:n.1194G>A
ENST00000672797.1:n.1304G>A
ENST00000672900.1:n.1649G>A
XM_006719617.2:c.866G>A	XP_006719680.1:p.Trp289Ter
XM_006719619.2:c.866G>A	XP_006719682.1:p.Trp289Ter
XM_011538777.1:c.866G>A	XP_011537079.1:p.Trp289Ter
XM_011538778.1:c.851G>A	XP_011537080.1:p.Trp284Ter
XM_011538778.2:c.851G>A	XP_011537080.1:p.Trp284Ter
XM_011538779.1:c.767G>A	XP_011537081.1:p.Trp256Ter
XM_011538780.1:c.752G>A	XP_011537082.1:p.Trp251Ter
XM_011538780.2:c.752G>A	XP_011537082.1:p.Trp251Ter
XM_011538781.1:c.200G>A	XP_011537083.1:p.Trp67Ter
XR_001748875.2:n.872G>A