Canonical Allele Identifier: CA385040826

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702592C>G (hg19) ; chr12:g.53308808C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308808C>G , CM000674.2:g.53308808C>G	GRCh38
NC_000012.11:g.53702592C>G , CM000674.1:g.53702592C>G	GRCh37
NC_000012.10:g.51988859C>G	NCBI36
NG_016775.1:g.17821G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1004G>C MANE Select	ENSP00000209873.4:p.Cys335Ser
ENST00000546393.7:n.1849G>C
ENST00000546562.6:n.2068G>C
ENST00000547238.6:n.1640G>C
ENST00000547520.6:n.998G>C
ENST00000547757.2:c.53G>C	ENSP00000448020.2:p.Cys18Ser
ENST00000548880.2:n.1454G>C
ENST00000548931.6:c.524G>C	ENSP00000457518.1:p.Cys175Ser
ENST00000549450.6:n.938G>C
ENST00000552161.6:n.1960G>C
ENST00000672797.1:n.1493G>C
ENST00000672900.1:n.1946G>C
ENST00000209873.8:c.1004G>C	ENSP00000209873.4:p.Cys335Ser
ENST00000394384.7:c.905G>C	ENSP00000377908.3:p.Cys302Ser
ENST00000547520.5:n.708G>C
ENST00000548931.5:c.524G>C	ENSP00000457518.1:p.Cys175Ser
ENST00000550033.5:n.259G>C
ENST00000550286.5:c.632G>C	ENSP00000446885.1:p.Cys211Ser
ENST00000552876.5:n.1347G>C
NM_001173466.1:c.905G>C	NP_001166937.1:p.Cys302Ser
NM_015665.5:c.1004G>C	NP_056480.1:p.Cys335Ser
XM_006719617.2:c.1019G>C	XP_006719680.1:p.Cys340Ser
XM_006719619.2:c.*14G>C	XP_006719682.1:n.*14G>C
XM_011538777.1:c.1019G>C	XP_011537079.1:p.Cys340Ser
XM_011538778.1:c.1004G>C	XP_011537080.1:p.Cys335Ser
XM_011538779.1:c.920G>C	XP_011537081.1:p.Cys307Ser
XM_011538780.1:c.905G>C	XP_011537082.1:p.Cys302Ser
XM_011538781.1:c.353G>C	XP_011537083.1:p.Cys118Ser
XM_011538778.2:c.1004G>C	XP_011537080.1:p.Cys335Ser
XM_011538780.2:c.905G>C	XP_011537082.1:p.Cys302Ser
XR_001748875.2:n.1061G>C
NM_015665.6:c.1004G>C MANE Select	NP_056480.1:p.Cys335Ser
NM_001173466.2:c.905G>C	NP_001166937.1:p.Cys302Ser