Canonical Allele Identifier: CA385041604

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702945A>C (hg19) ; chr12:g.53309161A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309161A>C , CM000674.2:g.53309161A>C	GRCh38
NC_000012.11:g.53702945A>C , CM000674.1:g.53702945A>C	GRCh37
NC_000012.10:g.51989212A>C	NCBI36
NG_016775.1:g.17468T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.931T>G MANE Select	ENSP00000209873.4:p.Phe311Val
ENST00000546393.7:n.1776T>G
ENST00000546562.6:n.1995T>G
ENST00000547238.6:n.1567T>G
ENST00000547520.6:n.925T>G
ENST00000547757.2:c.-21T>G	ENSP00000448020.2:n.-21T>G
ENST00000548880.2:n.1381T>G
ENST00000548931.6:c.451T>G	ENSP00000457518.1:p.Phe151Val
ENST00000549450.6:n.865T>G
ENST00000552161.6:n.1887T>G
ENST00000672797.1:n.1384T>G
ENST00000672900.1:n.1729T>G
ENST00000209873.8:c.931T>G	ENSP00000209873.4:p.Phe311Val
ENST00000394384.7:c.832T>G	ENSP00000377908.3:p.Phe278Val
ENST00000546393.6:n.828T>G
ENST00000546572.1:n.383T>G
ENST00000547520.5:n.635T>G
ENST00000547757.1:c.832T>G
ENST00000547761.6:n.823T>G
ENST00000548931.5:c.451T>G	ENSP00000457518.1:p.Phe151Val
ENST00000550033.5:n.186T>G
ENST00000550286.5:c.559T>G	ENSP00000446885.1:p.Phe187Val
ENST00000552876.5:n.1274T>G
NM_001173466.1:c.832T>G	NP_001166937.1:p.Phe278Val
NM_015665.5:c.931T>G	NP_056480.1:p.Phe311Val
XM_006719617.2:c.946T>G	XP_006719680.1:p.Phe316Val
XM_006719619.2:c.946T>G	XP_006719682.1:p.Phe316Val
XM_011538777.1:c.946T>G	XP_011537079.1:p.Phe316Val
XM_011538778.1:c.931T>G	XP_011537080.1:p.Phe311Val
XM_011538779.1:c.847T>G	XP_011537081.1:p.Phe283Val
XM_011538780.1:c.832T>G	XP_011537082.1:p.Phe278Val
XM_011538781.1:c.280T>G	XP_011537083.1:p.Phe94Val
XM_011538778.2:c.931T>G	XP_011537080.1:p.Phe311Val
XM_011538780.2:c.832T>G	XP_011537082.1:p.Phe278Val
XR_001748875.2:n.952T>G
NM_015665.6:c.931T>G MANE Select	NP_056480.1:p.Phe311Val
NM_001173466.2:c.832T>G	NP_001166937.1:p.Phe278Val