Canonical Allele Identifier: CA385040155

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702510A>C (hg19) ; chr12:g.53308726A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308726A>C , CM000674.2:g.53308726A>C	GRCh38
NC_000012.11:g.53702510A>C , CM000674.1:g.53702510A>C	GRCh37
NC_000012.10:g.51988777A>C	NCBI36
NG_016775.1:g.17903T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1086T>G MANE Select	ENSP00000209873.4:p.Cys362Trp
ENST00000546562.6:n.2150T>G
ENST00000547238.6:n.1722T>G
ENST00000547520.6:n.1080T>G
ENST00000547757.2:c.135T>G	ENSP00000448020.2:p.Cys45Trp
ENST00000548880.2:n.1536T>G
ENST00000548931.6:c.606T>G	ENSP00000457518.1:p.Cys202Trp
ENST00000549450.6:n.1020T>G
ENST00000552161.6:n.2042T>G
ENST00000672797.1:n.1575T>G
ENST00000672900.1:n.2028T>G
ENST00000209873.8:c.1086T>G	ENSP00000209873.4:p.Cys362Trp
ENST00000394384.7:c.987T>G	ENSP00000377908.3:p.Cys329Trp
ENST00000548931.5:c.606T>G	ENSP00000457518.1:p.Cys202Trp
ENST00000550033.5:n.341T>G
ENST00000550286.5:c.714T>G	ENSP00000446885.1:p.Cys238Trp
ENST00000552876.5:n.1429T>G
NM_001173466.1:c.987T>G	NP_001166937.1:p.Cys329Trp
NM_015665.5:c.1086T>G	NP_056480.1:p.Cys362Trp
XM_006719617.2:c.1101T>G	XP_006719680.1:p.Cys367Trp
XM_011538777.1:c.1101T>G	XP_011537079.1:p.Cys367Trp
XM_011538778.1:c.1086T>G	XP_011537080.1:p.Cys362Trp
XM_011538779.1:c.1002T>G	XP_011537081.1:p.Cys334Trp
XM_011538780.1:c.987T>G	XP_011537082.1:p.Cys329Trp
XM_011538781.1:c.435T>G	XP_011537083.1:p.Cys145Trp
XM_011538778.2:c.1086T>G	XP_011537080.1:p.Cys362Trp
XM_011538780.2:c.987T>G	XP_011537082.1:p.Cys329Trp
XR_001748875.2:n.1143T>G
NM_015665.6:c.1086T>G MANE Select	NP_056480.1:p.Cys362Trp
NM_001173466.2:c.987T>G	NP_001166937.1:p.Cys329Trp