Canonical Allele Identifier: CA385041221

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702773T>A (hg19) ; chr12:g.53308989T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308989T>A , CM000674.2:g.53308989T>A	GRCh38
NC_000012.11:g.53702773T>A , CM000674.1:g.53702773T>A	GRCh37
NC_000012.10:g.51989040T>A	NCBI36
NG_016775.1:g.17640A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.967A>T MANE Select	ENSP00000209873.4:p.Arg323Trp
ENST00000546393.7:n.1812A>T
ENST00000546562.6:n.2031A>T
ENST00000547238.6:n.1603A>T
ENST00000547520.6:n.961A>T
ENST00000547757.2:c.16A>T	ENSP00000448020.2:p.Arg6Trp
ENST00000548880.2:n.1417A>T
ENST00000548931.6:c.487A>T	ENSP00000457518.1:p.Arg163Trp
ENST00000549450.6:n.901A>T
ENST00000552161.6:n.1923A>T
ENST00000672797.1:n.1420A>T
ENST00000672900.1:n.1765A>T
ENST00000209873.8:c.967A>T	ENSP00000209873.4:p.Arg323Trp
ENST00000394384.7:c.868A>T	ENSP00000377908.3:p.Arg290Trp
ENST00000546572.1:n.555A>T
ENST00000547520.5:n.671A>T
ENST00000548931.5:c.487A>T	ENSP00000457518.1:p.Arg163Trp
ENST00000550033.5:n.222A>T
ENST00000550286.5:c.595A>T	ENSP00000446885.1:p.Arg199Trp
ENST00000552876.5:n.1310A>T
NM_001173466.1:c.868A>T	NP_001166937.1:p.Arg290Trp
NM_015665.5:c.967A>T	NP_056480.1:p.Arg323Trp
XM_006719617.2:c.982A>T	XP_006719680.1:p.Arg328Trp
XM_006719619.2:c.982A>T	XP_006719682.1:p.Arg328Trp
XM_011538777.1:c.982A>T	XP_011537079.1:p.Arg328Trp
XM_011538778.1:c.967A>T	XP_011537080.1:p.Arg323Trp
XM_011538779.1:c.883A>T	XP_011537081.1:p.Arg295Trp
XM_011538780.1:c.868A>T	XP_011537082.1:p.Arg290Trp
XM_011538781.1:c.316A>T	XP_011537083.1:p.Arg106Trp
XM_011538778.2:c.967A>T	XP_011537080.1:p.Arg323Trp
XM_011538780.2:c.868A>T	XP_011537082.1:p.Arg290Trp
XR_001748875.2:n.988A>T
NM_015665.6:c.967A>T MANE Select	NP_056480.1:p.Arg323Trp
NM_001173466.2:c.868A>T	NP_001166937.1:p.Arg290Trp