Canonical Allele Identifier: CA385040181

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702512A>C (hg19) ; chr12:g.53308728A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308728A>C , CM000674.2:g.53308728A>C	GRCh38
NC_000012.11:g.53702512A>C , CM000674.1:g.53702512A>C	GRCh37
NC_000012.10:g.51988779A>C	NCBI36
NG_016775.1:g.17901T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1084T>G MANE Select	ENSP00000209873.4:p.Cys362Gly
ENST00000546562.6:n.2148T>G
ENST00000547238.6:n.1720T>G
ENST00000547520.6:n.1078T>G
ENST00000547757.2:c.133T>G	ENSP00000448020.2:p.Cys45Gly
ENST00000548880.2:n.1534T>G
ENST00000548931.6:c.604T>G	ENSP00000457518.1:p.Cys202Gly
ENST00000549450.6:n.1018T>G
ENST00000552161.6:n.2040T>G
ENST00000672797.1:n.1573T>G
ENST00000672900.1:n.2026T>G
ENST00000209873.8:c.1084T>G	ENSP00000209873.4:p.Cys362Gly
ENST00000394384.7:c.985T>G	ENSP00000377908.3:p.Cys329Gly
ENST00000548931.5:c.604T>G	ENSP00000457518.1:p.Cys202Gly
ENST00000550033.5:n.339T>G
ENST00000550286.5:c.712T>G	ENSP00000446885.1:p.Cys238Gly
ENST00000552876.5:n.1427T>G
NM_001173466.1:c.985T>G	NP_001166937.1:p.Cys329Gly
NM_015665.5:c.1084T>G	NP_056480.1:p.Cys362Gly
XM_006719617.2:c.1099T>G	XP_006719680.1:p.Cys367Gly
XM_011538777.1:c.1099T>G	XP_011537079.1:p.Cys367Gly
XM_011538778.1:c.1084T>G	XP_011537080.1:p.Cys362Gly
XM_011538779.1:c.1000T>G	XP_011537081.1:p.Cys334Gly
XM_011538780.1:c.985T>G	XP_011537082.1:p.Cys329Gly
XM_011538781.1:c.433T>G	XP_011537083.1:p.Cys145Gly
XM_011538778.2:c.1084T>G	XP_011537080.1:p.Cys362Gly
XM_011538780.2:c.985T>G	XP_011537082.1:p.Cys329Gly
XR_001748875.2:n.1141T>G
NM_015665.6:c.1084T>G MANE Select	NP_056480.1:p.Cys362Gly
NM_001173466.2:c.985T>G	NP_001166937.1:p.Cys329Gly