Canonical Allele Identifier: CA385037036

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701454A>G (hg19) ; chr12:g.53307670A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307670A>G , CM000674.2:g.53307670A>G	GRCh38
NC_000012.11:g.53701454A>G , CM000674.1:g.53701454A>G	GRCh37
NC_000012.10:g.51987721A>G	NCBI36
NG_016775.1:g.18959T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1460T>C MANE Select	ENSP00000209873.4:p.Val487Ala
ENST00000546562.6:n.2524T>C
ENST00000547238.6:n.2096T>C
ENST00000547520.6:n.1576T>C
ENST00000547757.2:c.*378T>C	ENSP00000448020.2:n.*378T>C
ENST00000548880.2:n.1910T>C
ENST00000548931.6:c.895T>C	ENSP00000457518.1:p.Ser299Pro
ENST00000549450.6:n.1394T>C
ENST00000552161.6:n.2538T>C
ENST00000672797.1:n.1949T>C
ENST00000209873.8:c.1460T>C	ENSP00000209873.4:p.Val487Ala
ENST00000394384.7:c.1361T>C	ENSP00000377908.3:p.Val454Ala
ENST00000548931.5:c.895T>C	ENSP00000457518.1:p.Ser299Pro
ENST00000550286.5:c.1088T>C	ENSP00000446885.1:p.Val363Ala
ENST00000552876.5:n.1803T>C
NM_001173466.1:c.1361T>C	NP_001166937.1:p.Val454Ala
NM_015665.5:c.1460T>C	NP_056480.1:p.Val487Ala
XM_006719617.2:c.1475T>C	XP_006719680.1:p.Val492Ala
XM_011538777.1:c.1517T>C	XP_011537079.1:p.Val506Ala
XM_011538778.1:c.1502T>C	XP_011537080.1:p.Val501Ala
XM_011538779.1:c.1418T>C	XP_011537081.1:p.Val473Ala
XM_011538780.1:c.1403T>C	XP_011537082.1:p.Val468Ala
XM_011538781.1:c.851T>C	XP_011537083.1:p.Val284Ala
XM_011538778.2:c.1502T>C	XP_011537080.1:p.Val501Ala
XM_011538780.2:c.1403T>C	XP_011537082.1:p.Val468Ala
XR_001748875.2:n.1517T>C
NM_015665.6:c.1460T>C MANE Select	NP_056480.1:p.Val487Ala
NM_001173466.2:c.1361T>C	NP_001166937.1:p.Val454Ala