Canonical Allele Identifier: CA385036839

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701434A>C (hg19) ; chr12:g.53307650A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307650A>C , CM000674.2:g.53307650A>C	GRCh38
NC_000012.11:g.53701434A>C , CM000674.1:g.53701434A>C	GRCh37
NC_000012.10:g.51987701A>C	NCBI36
NG_016775.1:g.18979T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1480T>G MANE Select	ENSP00000209873.4:p.Phe494Val
ENST00000546562.6:n.2544T>G
ENST00000547238.6:n.2116T>G
ENST00000547520.6:n.1596T>G
ENST00000547757.2:c.*398T>G	ENSP00000448020.2:n.*398T>G
ENST00000548880.2:n.1930T>G
ENST00000548931.6:c.915T>G	ENSP00000457518.1:p.Val305=
ENST00000549450.6:n.1414T>G
ENST00000552161.6:n.2558T>G
ENST00000672797.1:n.1969T>G
ENST00000209873.8:c.1480T>G	ENSP00000209873.4:p.Phe494Val
ENST00000394384.7:c.1381T>G	ENSP00000377908.3:p.Phe461Val
ENST00000548931.5:c.915T>G	ENSP00000457518.1:p.Val305=
ENST00000550286.5:c.1108T>G	ENSP00000446885.1:p.Phe370Val
ENST00000552876.5:n.1823T>G
NM_001173466.1:c.1381T>G	NP_001166937.1:p.Phe461Val
NM_015665.5:c.1480T>G	NP_056480.1:p.Phe494Val
XM_006719617.2:c.1495T>G	XP_006719680.1:p.Phe499Val
XM_011538777.1:c.1537T>G	XP_011537079.1:p.Phe513Val
XM_011538778.1:c.1522T>G	XP_011537080.1:p.Phe508Val
XM_011538779.1:c.1438T>G	XP_011537081.1:p.Phe480Val
XM_011538780.1:c.1423T>G	XP_011537082.1:p.Phe475Val
XM_011538781.1:c.871T>G	XP_011537083.1:p.Phe291Val
XM_011538778.2:c.1522T>G	XP_011537080.1:p.Phe508Val
XM_011538780.2:c.1423T>G	XP_011537082.1:p.Phe475Val
XR_001748875.2:n.1537T>G
NM_015665.6:c.1480T>G MANE Select	NP_056480.1:p.Phe494Val
NM_001173466.2:c.1381T>G	NP_001166937.1:p.Phe461Val