Canonical Allele Identifier: CA385037440

Gene: AAAS

Linked Data

• COSMIC: COSM4152869
• MyVariant Identifiers: chr12:g.53701490G>A (hg19) ; chr12:g.53307706G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307706G>A , CM000674.2:g.53307706G>A	GRCh38
NC_000012.11:g.53701490G>A , CM000674.1:g.53701490G>A	GRCh37
NC_000012.10:g.51987757G>A	NCBI36
NG_016775.1:g.18923C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1424C>T MANE Select	ENSP00000209873.4:p.Ser475Phe
ENST00000546562.6:n.2488C>T
ENST00000547238.6:n.2060C>T
ENST00000547520.6:n.1540C>T
ENST00000547757.2:c.*342C>T	ENSP00000448020.2:n.*342C>T
ENST00000548880.2:n.1874C>T
ENST00000548931.6:c.859C>T	ENSP00000457518.1:p.Pro287Ser
ENST00000549450.6:n.1358C>T
ENST00000552161.6:n.2502C>T
ENST00000672797.1:n.1913C>T
ENST00000209873.8:c.1424C>T	ENSP00000209873.4:p.Ser475Phe
ENST00000394384.7:c.1325C>T	ENSP00000377908.3:p.Ser442Phe
ENST00000548931.5:c.859C>T	ENSP00000457518.1:p.Pro287Ser
ENST00000550286.5:c.1052C>T	ENSP00000446885.1:p.Ser351Phe
ENST00000552876.5:n.1767C>T
NM_001173466.1:c.1325C>T	NP_001166937.1:p.Ser442Phe
NM_015665.5:c.1424C>T	NP_056480.1:p.Ser475Phe
XM_006719617.2:c.1439C>T	XP_006719680.1:p.Ser480Phe
XM_011538777.1:c.1481C>T	XP_011537079.1:p.Ser494Phe
XM_011538778.1:c.1466C>T	XP_011537080.1:p.Ser489Phe
XM_011538779.1:c.1382C>T	XP_011537081.1:p.Ser461Phe
XM_011538780.1:c.1367C>T	XP_011537082.1:p.Ser456Phe
XM_011538781.1:c.815C>T	XP_011537083.1:p.Ser272Phe
XM_011538778.2:c.1466C>T	XP_011537080.1:p.Ser489Phe
XM_011538780.2:c.1367C>T	XP_011537082.1:p.Ser456Phe
XR_001748875.2:n.1481C>T
NM_015665.6:c.1424C>T MANE Select	NP_056480.1:p.Ser475Phe
NM_001173466.2:c.1325C>T	NP_001166937.1:p.Ser442Phe