Canonical Allele Identifier: CA385041620

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702947A>T (hg19) ; chr12:g.53309163A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309163A>T , CM000674.2:g.53309163A>T	GRCh38
NC_000012.11:g.53702947A>T , CM000674.1:g.53702947A>T	GRCh37
NC_000012.10:g.51989214A>T	NCBI36
NG_016775.1:g.17466T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000209873.9:c.929T>A MANE Select	ENSP00000209873.4:p.Val310Asp
ENST00000546393.7:n.1774T>A
ENST00000546562.6:n.1993T>A
ENST00000547238.6:n.1565T>A
ENST00000547520.6:n.923T>A
ENST00000547757.2:c.-23T>A	ENSP00000448020.2:n.-23T>A
ENST00000548880.2:n.1379T>A
ENST00000548931.6:c.449T>A	ENSP00000457518.1:p.Val150Asp
ENST00000549450.6:n.863T>A
ENST00000552161.6:n.1885T>A
ENST00000672797.1:n.1382T>A
ENST00000672900.1:n.1727T>A
ENST00000209873.8:c.929T>A	ENSP00000209873.4:p.Val310Asp
ENST00000394384.7:c.830T>A	ENSP00000377908.3:p.Val277Asp
ENST00000546393.6:n.826T>A
ENST00000546572.1:n.381T>A
ENST00000547520.5:n.633T>A
ENST00000547757.1:c.830T>A	ENSP00000448020.1:p.Val277Asp
ENST00000547761.6:n.821T>A
ENST00000548931.5:c.449T>A	ENSP00000457518.1:p.Val150Asp
ENST00000550033.5:n.184T>A
ENST00000550286.5:c.557T>A	ENSP00000446885.1:p.Val186Asp
ENST00000552876.5:n.1272T>A
NM_001173466.1:c.830T>A	NP_001166937.1:p.Val277Asp
NM_015665.5:c.929T>A	NP_056480.1:p.Val310Asp
XM_006719617.2:c.944T>A	XP_006719680.1:p.Val315Asp
XM_006719619.2:c.944T>A	XP_006719682.1:p.Val315Asp
XM_011538777.1:c.944T>A	XP_011537079.1:p.Val315Asp
XM_011538778.1:c.929T>A	XP_011537080.1:p.Val310Asp
XM_011538779.1:c.845T>A	XP_011537081.1:p.Val282Asp
XM_011538780.1:c.830T>A	XP_011537082.1:p.Val277Asp
XM_011538781.1:c.278T>A	XP_011537083.1:p.Val93Asp
XM_011538778.2:c.929T>A	XP_011537080.1:p.Val310Asp
XM_011538780.2:c.830T>A	XP_011537082.1:p.Val277Asp
XR_001748875.2:n.950T>A
NM_015665.6:c.929T>A MANE Select	NP_056480.1:p.Val310Asp
NM_001173466.2:c.830T>A	NP_001166937.1:p.Val277Asp