Canonical Allele Identifier: CA385040851

Gene: AAAS

Linked Data

• dbSNP Id: rs1485071406
• gnomAD v2: 12-53702598-G-A
• gnomAD v4: 12-53308814-G-A
• MyVariant Identifiers: chr12:g.53702598G>A (hg19) ; chr12:g.53308814G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308814G>A , CM000674.2:g.53308814G>A	GRCh38
NC_000012.11:g.53702598G>A , CM000674.1:g.53702598G>A	GRCh37
NC_000012.10:g.51988865G>A	NCBI36
NG_016775.1:g.17815C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.998C>T MANE Select	ENSP00000209873.4:p.Thr333Ile
ENST00000546393.7:n.1843C>T
ENST00000546562.6:n.2062C>T
ENST00000547238.6:n.1634C>T
ENST00000547520.6:n.992C>T
ENST00000547757.2:c.47C>T	ENSP00000448020.2:p.Thr16Ile
ENST00000548880.2:n.1448C>T
ENST00000548931.6:c.518C>T	ENSP00000457518.1:p.Thr173Ile
ENST00000549450.6:n.932C>T
ENST00000552161.6:n.1954C>T
ENST00000672797.1:n.1487C>T
ENST00000672900.1:n.1940C>T
ENST00000209873.8:c.998C>T	ENSP00000209873.4:p.Thr333Ile
ENST00000394384.7:c.899C>T	ENSP00000377908.3:p.Thr300Ile
ENST00000547520.5:n.702C>T
ENST00000548931.5:c.518C>T	ENSP00000457518.1:p.Thr173Ile
ENST00000550033.5:n.253C>T
ENST00000550286.5:c.626C>T	ENSP00000446885.1:p.Thr209Ile
ENST00000552876.5:n.1341C>T
NM_001173466.1:c.899C>T	NP_001166937.1:p.Thr300Ile
NM_015665.5:c.998C>T	NP_056480.1:p.Thr333Ile
XM_006719617.2:c.1013C>T	XP_006719680.1:p.Thr338Ile
XM_006719619.2:c.*8C>T	XP_006719682.1:n.*8C>T
XM_011538777.1:c.1013C>T	XP_011537079.1:p.Thr338Ile
XM_011538778.1:c.998C>T	XP_011537080.1:p.Thr333Ile
XM_011538779.1:c.914C>T	XP_011537081.1:p.Thr305Ile
XM_011538780.1:c.899C>T	XP_011537082.1:p.Thr300Ile
XM_011538781.1:c.347C>T	XP_011537083.1:p.Thr116Ile
XM_011538778.2:c.998C>T	XP_011537080.1:p.Thr333Ile
XM_011538780.2:c.899C>T	XP_011537082.1:p.Thr300Ile
XR_001748875.2:n.1055C>T
NM_015665.6:c.998C>T MANE Select	NP_056480.1:p.Thr333Ile
NM_001173466.2:c.899C>T	NP_001166937.1:p.Thr300Ile