Canonical Allele Identifier: CA385036948

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701446G>C (hg19) ; chr12:g.53307662G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307662G>C , CM000674.2:g.53307662G>C	GRCh38
NC_000012.11:g.53701446G>C , CM000674.1:g.53701446G>C	GRCh37
NC_000012.10:g.51987713G>C	NCBI36
NG_016775.1:g.18967C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1468C>G MANE Select	ENSP00000209873.4:p.Gln490Glu
ENST00000546562.6:n.2532C>G
ENST00000547238.6:n.2104C>G
ENST00000547520.6:n.1584C>G
ENST00000547757.2:c.*386C>G	ENSP00000448020.2:n.*386C>G
ENST00000548880.2:n.1918C>G
ENST00000548931.6:c.903C>G	ENSP00000457518.1:p.Pro301=
ENST00000549450.6:n.1402C>G
ENST00000552161.6:n.2546C>G
ENST00000672797.1:n.1957C>G
ENST00000209873.8:c.1468C>G	ENSP00000209873.4:p.Gln490Glu
ENST00000394384.7:c.1369C>G	ENSP00000377908.3:p.Gln457Glu
ENST00000548931.5:c.903C>G	ENSP00000457518.1:p.Pro301=
ENST00000550286.5:c.1096C>G	ENSP00000446885.1:p.Gln366Glu
ENST00000552876.5:n.1811C>G
NM_001173466.1:c.1369C>G	NP_001166937.1:p.Gln457Glu
NM_015665.5:c.1468C>G	NP_056480.1:p.Gln490Glu
XM_006719617.2:c.1483C>G	XP_006719680.1:p.Gln495Glu
XM_011538777.1:c.1525C>G	XP_011537079.1:p.Gln509Glu
XM_011538778.1:c.1510C>G	XP_011537080.1:p.Gln504Glu
XM_011538779.1:c.1426C>G	XP_011537081.1:p.Gln476Glu
XM_011538780.1:c.1411C>G	XP_011537082.1:p.Gln471Glu
XM_011538781.1:c.859C>G	XP_011537083.1:p.Gln287Glu
XM_011538778.2:c.1510C>G	XP_011537080.1:p.Gln504Glu
XM_011538780.2:c.1411C>G	XP_011537082.1:p.Gln471Glu
XR_001748875.2:n.1525C>G
NM_015665.6:c.1468C>G MANE Select	NP_056480.1:p.Gln490Glu
NM_001173466.2:c.1369C>G	NP_001166937.1:p.Gln457Glu