Canonical Allele Identifier: CA385040807

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702589C>T (hg19) ; chr12:g.53308805C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308805C>T , CM000674.2:g.53308805C>T	GRCh38
NC_000012.11:g.53702589C>T , CM000674.1:g.53702589C>T	GRCh37
NC_000012.10:g.51988856C>T	NCBI36
NG_016775.1:g.17824G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1007G>A MANE Select	ENSP00000209873.4:p.Trp336Ter
ENST00000546393.7:n.1852G>A
ENST00000546562.6:n.2071G>A
ENST00000547238.6:n.1643G>A
ENST00000547520.6:n.1001G>A
ENST00000547757.2:c.56G>A	ENSP00000448020.2:p.Trp19Ter
ENST00000548880.2:n.1457G>A
ENST00000548931.6:c.527G>A	ENSP00000457518.1:p.Trp176Ter
ENST00000549450.6:n.941G>A
ENST00000552161.6:n.1963G>A
ENST00000672797.1:n.1496G>A
ENST00000672900.1:n.1949G>A
ENST00000209873.8:c.1007G>A	ENSP00000209873.4:p.Trp336Ter
ENST00000394384.7:c.908G>A	ENSP00000377908.3:p.Trp303Ter
ENST00000547520.5:n.711G>A
ENST00000548931.5:c.527G>A	ENSP00000457518.1:p.Trp176Ter
ENST00000550033.5:n.262G>A
ENST00000550286.5:c.635G>A	ENSP00000446885.1:p.Trp212Ter
ENST00000552876.5:n.1350G>A
NM_001173466.1:c.908G>A	NP_001166937.1:p.Trp303Ter
NM_015665.5:c.1007G>A	NP_056480.1:p.Trp336Ter
XM_006719617.2:c.1022G>A	XP_006719680.1:p.Trp341Ter
XM_006719619.2:c.*17G>A	XP_006719682.1:n.*17G>A
XM_011538777.1:c.1022G>A	XP_011537079.1:p.Trp341Ter
XM_011538778.1:c.1007G>A	XP_011537080.1:p.Trp336Ter
XM_011538779.1:c.923G>A	XP_011537081.1:p.Trp308Ter
XM_011538780.1:c.908G>A	XP_011537082.1:p.Trp303Ter
XM_011538781.1:c.356G>A	XP_011537083.1:p.Trp119Ter
XM_011538778.2:c.1007G>A	XP_011537080.1:p.Trp336Ter
XM_011538780.2:c.908G>A	XP_011537082.1:p.Trp303Ter
XR_001748875.2:n.1064G>A
NM_015665.6:c.1007G>A MANE Select	NP_056480.1:p.Trp336Ter
NM_001173466.2:c.908G>A	NP_001166937.1:p.Trp303Ter