Canonical Allele Identifier: CA385036810

Gene: AAAS

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1484G>T MANE Select	ENSP00000209873.4:p.Ser495Ile
ENST00000546562.6:n.2548G>T
ENST00000547238.6:n.2120G>T
ENST00000547520.6:n.1600G>T
ENST00000547757.2:c.*402G>T	ENSP00000448020.2:n.*402G>T
ENST00000548880.2:n.1934G>T
ENST00000548931.6:c.919G>T	ENSP00000457518.1:p.Ala307Ser
ENST00000549450.6:n.1418G>T
ENST00000552161.6:n.2562G>T
ENST00000672797.1:n.1973G>T
ENST00000209873.8:c.1484G>T	ENSP00000209873.4:p.Ser495Ile
ENST00000394384.7:c.1385G>T	ENSP00000377908.3:p.Ser462Ile
ENST00000548931.5:c.919G>T	ENSP00000457518.1:p.Ala307Ser
ENST00000550286.5:c.1112G>T	ENSP00000446885.1:p.Ser371Ile
ENST00000552876.5:n.1827G>T
NM_001173466.1:c.1385G>T	NP_001166937.1:p.Ser462Ile
NM_015665.5:c.1484G>T	NP_056480.1:p.Ser495Ile
XM_006719617.2:c.1499G>T	XP_006719680.1:p.Ser500Ile
XM_011538777.1:c.1541G>T	XP_011537079.1:p.Ser514Ile
XM_011538778.1:c.1526G>T	XP_011537080.1:p.Ser509Ile
XM_011538779.1:c.1442G>T	XP_011537081.1:p.Ser481Ile
XM_011538780.1:c.1427G>T	XP_011537082.1:p.Ser476Ile
XM_011538781.1:c.875G>T	XP_011537083.1:p.Ser292Ile
XM_011538778.2:c.1526G>T	XP_011537080.1:p.Ser509Ile
XM_011538780.2:c.1427G>T	XP_011537082.1:p.Ser476Ile
XR_001748875.2:n.1541G>T
NM_015665.6:c.1484G>T MANE Select	NP_056480.1:p.Ser495Ile
NM_001173466.2:c.1385G>T	NP_001166937.1:p.Ser462Ile