Canonical Allele Identifier: CA385041342

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702784C>G (hg19) ; chr12:g.53309000C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309000C>G , CM000674.2:g.53309000C>G	GRCh38
NC_000012.11:g.53702784C>G , CM000674.1:g.53702784C>G	GRCh37
NC_000012.10:g.51989051C>G	NCBI36
NG_016775.1:g.17629G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.956G>C MANE Select	ENSP00000209873.4:p.Trp319Ser
ENST00000546393.7:n.1801G>C
ENST00000546562.6:n.2020G>C
ENST00000547238.6:n.1592G>C
ENST00000547520.6:n.950G>C
ENST00000547757.2:c.5G>C	ENSP00000448020.2:p.Trp2Ser
ENST00000548880.2:n.1406G>C
ENST00000548931.6:c.476G>C	ENSP00000457518.1:p.Trp159Ser
ENST00000549450.6:n.890G>C
ENST00000552161.6:n.1912G>C
ENST00000672797.1:n.1409G>C
ENST00000672900.1:n.1754G>C
ENST00000209873.8:c.956G>C	ENSP00000209873.4:p.Trp319Ser
ENST00000394384.7:c.857G>C	ENSP00000377908.3:p.Trp286Ser
ENST00000546572.1:n.544G>C
ENST00000547520.5:n.660G>C
ENST00000548931.5:c.476G>C	ENSP00000457518.1:p.Trp159Ser
ENST00000550033.5:n.211G>C
ENST00000550286.5:c.584G>C	ENSP00000446885.1:p.Trp195Ser
ENST00000552876.5:n.1299G>C
NM_001173466.1:c.857G>C	NP_001166937.1:p.Trp286Ser
NM_015665.5:c.956G>C	NP_056480.1:p.Trp319Ser
XM_006719617.2:c.971G>C	XP_006719680.1:p.Trp324Ser
XM_006719619.2:c.971G>C	XP_006719682.1:p.Trp324Ser
XM_011538777.1:c.971G>C	XP_011537079.1:p.Trp324Ser
XM_011538778.1:c.956G>C	XP_011537080.1:p.Trp319Ser
XM_011538779.1:c.872G>C	XP_011537081.1:p.Trp291Ser
XM_011538780.1:c.857G>C	XP_011537082.1:p.Trp286Ser
XM_011538781.1:c.305G>C	XP_011537083.1:p.Trp102Ser
XM_011538778.2:c.956G>C	XP_011537080.1:p.Trp319Ser
XM_011538780.2:c.857G>C	XP_011537082.1:p.Trp286Ser
XR_001748875.2:n.977G>C
NM_015665.6:c.956G>C MANE Select	NP_056480.1:p.Trp319Ser
NM_001173466.2:c.857G>C	NP_001166937.1:p.Trp286Ser