Canonical Allele Identifier: CA385035030

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701361A>C (hg19) ; chr12:g.53307577A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307577A>C , CM000674.2:g.53307577A>C	GRCh38
NC_000012.11:g.53701361A>C , CM000674.1:g.53701361A>C	GRCh37
NC_000012.10:g.51987628A>C	NCBI36
NG_016775.1:g.19052T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1553T>G MANE Select	ENSP00000209873.4:p.Phe518Cys
ENST00000546562.6:n.2617T>G
ENST00000547238.6:n.2189T>G
ENST00000547520.6:n.1669T>G
ENST00000547757.2:c.*471T>G	ENSP00000448020.2:n.*471T>G
ENST00000548931.6:c.988T>G	ENSP00000457518.1:p.Leu330Val
ENST00000549450.6:n.1487T>G
ENST00000672797.1:n.2042T>G
ENST00000209873.8:c.1553T>G	ENSP00000209873.4:p.Phe518Cys
ENST00000394384.7:c.1454T>G	ENSP00000377908.3:p.Phe485Cys
ENST00000548931.5:c.988T>G	ENSP00000457518.1:p.Leu330Val
ENST00000550286.5:c.1181T>G	ENSP00000446885.1:p.Phe394Cys
ENST00000552876.5:n.1896T>G
NM_001173466.1:c.1454T>G	NP_001166937.1:p.Phe485Cys
NM_015665.5:c.1553T>G	NP_056480.1:p.Phe518Cys
XM_006719617.2:c.1568T>G	XP_006719680.1:p.Phe523Cys
XM_011538777.1:c.1610T>G	XP_011537079.1:p.Phe537Cys
XM_011538778.1:c.1595T>G	XP_011537080.1:p.Phe532Cys
XM_011538779.1:c.1511T>G	XP_011537081.1:p.Phe504Cys
XM_011538780.1:c.1496T>G	XP_011537082.1:p.Phe499Cys
XM_011538781.1:c.944T>G	XP_011537083.1:p.Phe315Cys
XM_011538778.2:c.1595T>G	XP_011537080.1:p.Phe532Cys
XM_011538780.2:c.1496T>G	XP_011537082.1:p.Phe499Cys
XR_001748875.2:n.1610T>G
NM_015665.6:c.1553T>G MANE Select	NP_056480.1:p.Phe518Cys
NM_001173466.2:c.1454T>G	NP_001166937.1:p.Phe485Cys