Canonical Allele Identifier: CA385035266

Gene: AAAS

Linked Data

• COSMIC: COSM5841372
• MyVariant Identifiers: chr12:g.53701392C>T (hg19) ; chr12:g.53307608C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307608C>T , CM000674.2:g.53307608C>T	GRCh38
NC_000012.11:g.53701392C>T , CM000674.1:g.53701392C>T	GRCh37
NC_000012.10:g.51987659C>T	NCBI36
NG_016775.1:g.19021G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1522G>A MANE Select	ENSP00000209873.4:p.Gly508Ser
ENST00000546562.6:n.2586G>A
ENST00000547238.6:n.2158G>A
ENST00000547520.6:n.1638G>A
ENST00000547757.2:c.*440G>A	ENSP00000448020.2:n.*440G>A
ENST00000548931.6:c.957G>A	ENSP00000457518.1:p.Gly319=
ENST00000549450.6:n.1456G>A
ENST00000672797.1:n.2011G>A
ENST00000209873.8:c.1522G>A	ENSP00000209873.4:p.Gly508Ser
ENST00000394384.7:c.1423G>A	ENSP00000377908.3:p.Gly475Ser
ENST00000548931.5:c.957G>A	ENSP00000457518.1:p.Gly319=
ENST00000550286.5:c.1150G>A	ENSP00000446885.1:p.Gly384Ser
ENST00000552876.5:n.1865G>A
NM_001173466.1:c.1423G>A	NP_001166937.1:p.Gly475Ser
NM_015665.5:c.1522G>A	NP_056480.1:p.Gly508Ser
XM_006719617.2:c.1537G>A	XP_006719680.1:p.Gly513Ser
XM_011538777.1:c.1579G>A	XP_011537079.1:p.Gly527Ser
XM_011538778.1:c.1564G>A	XP_011537080.1:p.Gly522Ser
XM_011538779.1:c.1480G>A	XP_011537081.1:p.Gly494Ser
XM_011538780.1:c.1465G>A	XP_011537082.1:p.Gly489Ser
XM_011538781.1:c.913G>A	XP_011537083.1:p.Gly305Ser
XM_011538778.2:c.1564G>A	XP_011537080.1:p.Gly522Ser
XM_011538780.2:c.1465G>A	XP_011537082.1:p.Gly489Ser
XR_001748875.2:n.1579G>A
NM_015665.6:c.1522G>A MANE Select	NP_056480.1:p.Gly508Ser
NM_001173466.2:c.1423G>A	NP_001166937.1:p.Gly475Ser