Canonical Allele Identifier: CA6598994

Gene: AAAS

Linked Data

• dbSNP Id: rs745677053
• ExAC: 12:53702512 A / G
• gnomAD v2: 12-53702512-A-G
• MyVariant Identifiers: chr12:g.53702512A>G (hg19) ; chr12:g.53308728A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1084T>C MANE Select	ENSP00000209873.4:p.Cys362Arg
ENST00000546562.6:n.2148T>C
ENST00000547238.6:n.1720T>C
ENST00000547520.6:n.1078T>C
ENST00000547757.2:c.133T>C	ENSP00000448020.2:p.Cys45Arg
ENST00000548880.2:n.1534T>C
ENST00000548931.6:c.604T>C	ENSP00000457518.1:p.Cys202Arg
ENST00000549450.6:n.1018T>C
ENST00000552161.6:n.2040T>C
ENST00000672797.1:n.1573T>C
ENST00000672900.1:n.2026T>C
ENST00000209873.8:c.1084T>C	ENSP00000209873.4:p.Cys362Arg
ENST00000394384.7:c.985T>C	ENSP00000377908.3:p.Cys329Arg
ENST00000548931.5:c.604T>C	ENSP00000457518.1:p.Cys202Arg
ENST00000550033.5:n.339T>C
ENST00000550286.5:c.712T>C	ENSP00000446885.1:p.Cys238Arg
ENST00000552876.5:n.1427T>C
NM_001173466.1:c.985T>C	NP_001166937.1:p.Cys329Arg
NM_015665.5:c.1084T>C	NP_056480.1:p.Cys362Arg
XM_006719617.2:c.1099T>C	XP_006719680.1:p.Cys367Arg
XM_011538777.1:c.1099T>C	XP_011537079.1:p.Cys367Arg
XM_011538778.1:c.1084T>C	XP_011537080.1:p.Cys362Arg
XM_011538779.1:c.1000T>C	XP_011537081.1:p.Cys334Arg
XM_011538780.1:c.985T>C	XP_011537082.1:p.Cys329Arg
XM_011538781.1:c.433T>C	XP_011537083.1:p.Cys145Arg
XM_011538778.2:c.1084T>C	XP_011537080.1:p.Cys362Arg
XM_011538780.2:c.985T>C	XP_011537082.1:p.Cys329Arg
XR_001748875.2:n.1141T>C
NM_015665.6:c.1084T>C MANE Select	NP_056480.1:p.Cys362Arg
NM_001173466.2:c.985T>C	NP_001166937.1:p.Cys329Arg