Canonical Allele Identifier: CA385036841

Gene: AAAS

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1480T>C MANE Select	ENSP00000209873.4:p.Phe494Leu
ENST00000546562.6:n.2544T>C
ENST00000547238.6:n.2116T>C
ENST00000547520.6:n.1596T>C
ENST00000547757.2:c.*398T>C	ENSP00000448020.2:n.*398T>C
ENST00000548880.2:n.1930T>C
ENST00000548931.6:c.915T>C	ENSP00000457518.1:p.Val305=
ENST00000549450.6:n.1414T>C
ENST00000552161.6:n.2558T>C
ENST00000672797.1:n.1969T>C
ENST00000209873.8:c.1480T>C	ENSP00000209873.4:p.Phe494Leu
ENST00000394384.7:c.1381T>C	ENSP00000377908.3:p.Phe461Leu
ENST00000548931.5:c.915T>C	ENSP00000457518.1:p.Val305=
ENST00000550286.5:c.1108T>C	ENSP00000446885.1:p.Phe370Leu
ENST00000552876.5:n.1823T>C
NM_001173466.1:c.1381T>C	NP_001166937.1:p.Phe461Leu
NM_015665.5:c.1480T>C	NP_056480.1:p.Phe494Leu
XM_006719617.2:c.1495T>C	XP_006719680.1:p.Phe499Leu
XM_011538777.1:c.1537T>C	XP_011537079.1:p.Phe513Leu
XM_011538778.1:c.1522T>C	XP_011537080.1:p.Phe508Leu
XM_011538779.1:c.1438T>C	XP_011537081.1:p.Phe480Leu
XM_011538780.1:c.1423T>C	XP_011537082.1:p.Phe475Leu
XM_011538781.1:c.871T>C	XP_011537083.1:p.Phe291Leu
XM_011538778.2:c.1522T>C	XP_011537080.1:p.Phe508Leu
XM_011538780.2:c.1423T>C	XP_011537082.1:p.Phe475Leu
XR_001748875.2:n.1537T>C
NM_015665.6:c.1480T>C MANE Select	NP_056480.1:p.Phe494Leu
NM_001173466.2:c.1381T>C	NP_001166937.1:p.Phe461Leu