Canonical Allele Identifier: CA385036699

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701420A>G (hg19) ; chr12:g.53307636A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307636A>G , CM000674.2:g.53307636A>G	GRCh38
NC_000012.11:g.53701420A>G , CM000674.1:g.53701420A>G	GRCh37
NC_000012.10:g.51987687A>G	NCBI36
NG_016775.1:g.18993T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1494T>C MANE Select	ENSP00000209873.4:p.Leu498=
ENST00000546562.6:n.2558T>C
ENST00000547238.6:n.2130T>C
ENST00000547520.6:n.1610T>C
ENST00000547757.2:c.*412T>C	ENSP00000448020.2:n.*412T>C
ENST00000548931.6:c.929T>C	ENSP00000457518.1:p.Leu310Ser
ENST00000549450.6:n.1428T>C
ENST00000672797.1:n.1983T>C
ENST00000209873.8:c.1494T>C	ENSP00000209873.4:p.Leu498=
ENST00000394384.7:c.1395T>C	ENSP00000377908.3:p.Leu465=
ENST00000548931.5:c.929T>C	ENSP00000457518.1:p.Leu310Ser
ENST00000550286.5:c.1122T>C	ENSP00000446885.1:p.Leu374=
ENST00000552876.5:n.1837T>C
NM_001173466.1:c.1395T>C	NP_001166937.1:p.Leu465=
NM_015665.5:c.1494T>C	NP_056480.1:p.Leu498=
XM_006719617.2:c.1509T>C	XP_006719680.1:p.Leu503=
XM_011538777.1:c.1551T>C	XP_011537079.1:p.Leu517=
XM_011538778.1:c.1536T>C	XP_011537080.1:p.Leu512=
XM_011538779.1:c.1452T>C	XP_011537081.1:p.Leu484=
XM_011538780.1:c.1437T>C	XP_011537082.1:p.Leu479=
XM_011538781.1:c.885T>C	XP_011537083.1:p.Leu295=
XM_011538778.2:c.1536T>C	XP_011537080.1:p.Leu512=
XM_011538780.2:c.1437T>C	XP_011537082.1:p.Leu479=
XR_001748875.2:n.1551T>C
NM_015665.6:c.1494T>C MANE Select	NP_056480.1:p.Leu498=
NM_001173466.2:c.1395T>C	NP_001166937.1:p.Leu465=