Canonical Allele Identifier: CA6599014

Gene: AAAS

Linked Data

• dbSNP Id: rs779869524
• ExAC: 12:53702591 G / C
• gnomAD v2: 12-53702591-G-C
• gnomAD v4: 12-53308807-G-C
• MyVariant Identifiers: chr12:g.53702591G>C (hg19) ; chr12:g.53308807G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308807G>C , CM000674.2:g.53308807G>C	GRCh38
NC_000012.11:g.53702591G>C , CM000674.1:g.53702591G>C	GRCh37
NC_000012.10:g.51988858G>C	NCBI36
NG_016775.1:g.17822C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1005C>G MANE Select	ENSP00000209873.4:p.Cys335Trp
ENST00000546393.7:n.1850C>G
ENST00000546562.6:n.2069C>G
ENST00000547238.6:n.1641C>G
ENST00000547520.6:n.999C>G
ENST00000547757.2:c.54C>G	ENSP00000448020.2:p.Cys18Trp
ENST00000548880.2:n.1455C>G
ENST00000548931.6:c.525C>G	ENSP00000457518.1:p.Cys175Trp
ENST00000549450.6:n.939C>G
ENST00000552161.6:n.1961C>G
ENST00000672797.1:n.1494C>G
ENST00000672900.1:n.1947C>G
ENST00000209873.8:c.1005C>G	ENSP00000209873.4:p.Cys335Trp
ENST00000394384.7:c.906C>G	ENSP00000377908.3:p.Cys302Trp
ENST00000547520.5:n.709C>G
ENST00000548931.5:c.525C>G	ENSP00000457518.1:p.Cys175Trp
ENST00000550033.5:n.260C>G
ENST00000550286.5:c.633C>G	ENSP00000446885.1:p.Cys211Trp
ENST00000552876.5:n.1348C>G
NM_001173466.1:c.906C>G	NP_001166937.1:p.Cys302Trp
NM_015665.5:c.1005C>G	NP_056480.1:p.Cys335Trp
XM_006719617.2:c.1020C>G	XP_006719680.1:p.Cys340Trp
XM_006719619.2:c.*15C>G	XP_006719682.1:n.*15C>G
XM_011538777.1:c.1020C>G	XP_011537079.1:p.Cys340Trp
XM_011538778.1:c.1005C>G	XP_011537080.1:p.Cys335Trp
XM_011538779.1:c.921C>G	XP_011537081.1:p.Cys307Trp
XM_011538780.1:c.906C>G	XP_011537082.1:p.Cys302Trp
XM_011538781.1:c.354C>G	XP_011537083.1:p.Cys118Trp
XM_011538778.2:c.1005C>G	XP_011537080.1:p.Cys335Trp
XM_011538780.2:c.906C>G	XP_011537082.1:p.Cys302Trp
XR_001748875.2:n.1062C>G
NM_015665.6:c.1005C>G MANE Select	NP_056480.1:p.Cys335Trp
NM_001173466.2:c.906C>G	NP_001166937.1:p.Cys302Trp