Canonical Allele Identifier: CA385036806

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701430C>G (hg19) ; chr12:g.53307646C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307646C>G , CM000674.2:g.53307646C>G	GRCh38
NC_000012.11:g.53701430C>G , CM000674.1:g.53701430C>G	GRCh37
NC_000012.10:g.51987697C>G	NCBI36
NG_016775.1:g.18983G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1484G>C MANE Select	ENSP00000209873.4:p.Ser495Thr
ENST00000546562.6:n.2548G>C
ENST00000547238.6:n.2120G>C
ENST00000547520.6:n.1600G>C
ENST00000547757.2:c.*402G>C	ENSP00000448020.2:n.*402G>C
ENST00000548880.2:n.1934G>C
ENST00000548931.6:c.919G>C	ENSP00000457518.1:p.Ala307Pro
ENST00000549450.6:n.1418G>C
ENST00000552161.6:n.2562G>C
ENST00000672797.1:n.1973G>C
ENST00000209873.8:c.1484G>C	ENSP00000209873.4:p.Ser495Thr
ENST00000394384.7:c.1385G>C	ENSP00000377908.3:p.Ser462Thr
ENST00000548931.5:c.919G>C	ENSP00000457518.1:p.Ala307Pro
ENST00000550286.5:c.1112G>C	ENSP00000446885.1:p.Ser371Thr
ENST00000552876.5:n.1827G>C
NM_001173466.1:c.1385G>C	NP_001166937.1:p.Ser462Thr
NM_015665.5:c.1484G>C	NP_056480.1:p.Ser495Thr
XM_006719617.2:c.1499G>C	XP_006719680.1:p.Ser500Thr
XM_011538777.1:c.1541G>C	XP_011537079.1:p.Ser514Thr
XM_011538778.1:c.1526G>C	XP_011537080.1:p.Ser509Thr
XM_011538779.1:c.1442G>C	XP_011537081.1:p.Ser481Thr
XM_011538780.1:c.1427G>C	XP_011537082.1:p.Ser476Thr
XM_011538781.1:c.875G>C	XP_011537083.1:p.Ser292Thr
XM_011538778.2:c.1526G>C	XP_011537080.1:p.Ser509Thr
XM_011538780.2:c.1427G>C	XP_011537082.1:p.Ser476Thr
XR_001748875.2:n.1541G>C
NM_015665.6:c.1484G>C MANE Select	NP_056480.1:p.Ser495Thr
NM_001173466.2:c.1385G>C	NP_001166937.1:p.Ser462Thr