Canonical Allele Identifier: CA385040366

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702535T>G (hg19) ; chr12:g.53308751T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308751T>G , CM000674.2:g.53308751T>G	GRCh38
NC_000012.11:g.53702535T>G , CM000674.1:g.53702535T>G	GRCh37
NC_000012.10:g.51988802T>G	NCBI36
NG_016775.1:g.17878A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1061A>C MANE Select	ENSP00000209873.4:p.Tyr354Ser
ENST00000546562.6:n.2125A>C
ENST00000547238.6:n.1697A>C
ENST00000547520.6:n.1055A>C
ENST00000547757.2:c.110A>C	ENSP00000448020.2:p.Tyr37Ser
ENST00000548880.2:n.1511A>C
ENST00000548931.6:c.581A>C	ENSP00000457518.1:p.Tyr194Ser
ENST00000549450.6:n.995A>C
ENST00000552161.6:n.2017A>C
ENST00000672797.1:n.1550A>C
ENST00000672900.1:n.2003A>C
ENST00000209873.8:c.1061A>C	ENSP00000209873.4:p.Tyr354Ser
ENST00000394384.7:c.962A>C	ENSP00000377908.3:p.Tyr321Ser
ENST00000547520.5:n.765A>C
ENST00000548931.5:c.581A>C	ENSP00000457518.1:p.Tyr194Ser
ENST00000550033.5:n.316A>C
ENST00000550286.5:c.689A>C	ENSP00000446885.1:p.Tyr230Ser
ENST00000552876.5:n.1404A>C
NM_001173466.1:c.962A>C	NP_001166937.1:p.Tyr321Ser
NM_015665.5:c.1061A>C	NP_056480.1:p.Tyr354Ser
XM_006719617.2:c.1076A>C	XP_006719680.1:p.Tyr359Ser
XM_011538777.1:c.1076A>C	XP_011537079.1:p.Tyr359Ser
XM_011538778.1:c.1061A>C	XP_011537080.1:p.Tyr354Ser
XM_011538779.1:c.977A>C	XP_011537081.1:p.Tyr326Ser
XM_011538780.1:c.962A>C	XP_011537082.1:p.Tyr321Ser
XM_011538781.1:c.410A>C	XP_011537083.1:p.Tyr137Ser
XM_011538778.2:c.1061A>C	XP_011537080.1:p.Tyr354Ser
XM_011538780.2:c.962A>C	XP_011537082.1:p.Tyr321Ser
XR_001748875.2:n.1118A>C
NM_015665.6:c.1061A>C MANE Select	NP_056480.1:p.Tyr354Ser
NM_001173466.2:c.962A>C	NP_001166937.1:p.Tyr321Ser