Canonical Allele Identifier: CA385037435

Gene: AAAS

Linked Data

• ClinVar Variation Id: 2881527
• ClinVar RCV Id: RCV003708121
• MyVariant Identifiers: chr12:g.53701489G>A (hg19) ; chr12:g.53307705G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307705G>A , CM000674.2:g.53307705G>A	GRCh38
NC_000012.11:g.53701489G>A , CM000674.1:g.53701489G>A	GRCh37
NC_000012.10:g.51987756G>A	NCBI36
NG_016775.1:g.18924C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1425C>T MANE Select	ENSP00000209873.4:p.Ser475=
ENST00000546562.6:n.2489C>T
ENST00000547238.6:n.2061C>T
ENST00000547520.6:n.1541C>T
ENST00000547757.2:c.*343C>T	ENSP00000448020.2:n.*343C>T
ENST00000548880.2:n.1875C>T
ENST00000548931.6:c.860C>T	ENSP00000457518.1:p.Pro287Leu
ENST00000549450.6:n.1359C>T
ENST00000552161.6:n.2503C>T
ENST00000672797.1:n.1914C>T
ENST00000209873.8:c.1425C>T	ENSP00000209873.4:p.Ser475=
ENST00000394384.7:c.1326C>T	ENSP00000377908.3:p.Ser442=
ENST00000548931.5:c.860C>T	ENSP00000457518.1:p.Pro287Leu
ENST00000550286.5:c.1053C>T	ENSP00000446885.1:p.Ser351=
ENST00000552876.5:n.1768C>T
NM_001173466.1:c.1326C>T	NP_001166937.1:p.Ser442=
NM_015665.5:c.1425C>T	NP_056480.1:p.Ser475=
XM_006719617.2:c.1440C>T	XP_006719680.1:p.Ser480=
XM_011538777.1:c.1482C>T	XP_011537079.1:p.Ser494=
XM_011538778.1:c.1467C>T	XP_011537080.1:p.Ser489=
XM_011538779.1:c.1383C>T	XP_011537081.1:p.Ser461=
XM_011538780.1:c.1368C>T	XP_011537082.1:p.Ser456=
XM_011538781.1:c.816C>T	XP_011537083.1:p.Ser272=
XM_011538778.2:c.1467C>T	XP_011537080.1:p.Ser489=
XM_011538780.2:c.1368C>T	XP_011537082.1:p.Ser456=
XR_001748875.2:n.1482C>T
NM_015665.6:c.1425C>T MANE Select	NP_056480.1:p.Ser475=
NM_001173466.2:c.1326C>T	NP_001166937.1:p.Ser442=