Canonical Allele Identifier: CA385034889

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701343G>A (hg19) ; chr12:g.53307559G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307559G>A , CM000674.2:g.53307559G>A	GRCh38
NC_000012.11:g.53701343G>A , CM000674.1:g.53701343G>A	GRCh37
NC_000012.10:g.51987610G>A	NCBI36
NG_016775.1:g.19070C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1571C>T MANE Select	ENSP00000209873.4:p.Thr524Ile
ENST00000546562.6:n.2635C>T
ENST00000547238.6:n.2207C>T
ENST00000547520.6:n.1687C>T
ENST00000547757.2:c.*489C>T	ENSP00000448020.2:n.*489C>T
ENST00000548931.6:c.1006C>T	ENSP00000457518.1:p.Pro336Ser
ENST00000549450.6:n.1505C>T
ENST00000672797.1:n.2060C>T
ENST00000209873.8:c.1571C>T	ENSP00000209873.4:p.Thr524Ile
ENST00000394384.7:c.1472C>T	ENSP00000377908.3:p.Thr491Ile
ENST00000548931.5:c.1006C>T	ENSP00000457518.1:p.Pro336Ser
ENST00000550286.5:c.1199C>T	ENSP00000446885.1:p.Thr400Ile
ENST00000552876.5:n.1914C>T
NM_001173466.1:c.1472C>T	NP_001166937.1:p.Thr491Ile
NM_015665.5:c.1571C>T	NP_056480.1:p.Thr524Ile
XM_006719617.2:c.1586C>T	XP_006719680.1:p.Thr529Ile
XM_011538777.1:c.1628C>T	XP_011537079.1:p.Thr543Ile
XM_011538778.1:c.1613C>T	XP_011537080.1:p.Thr538Ile
XM_011538779.1:c.1529C>T	XP_011537081.1:p.Thr510Ile
XM_011538780.1:c.1514C>T	XP_011537082.1:p.Thr505Ile
XM_011538781.1:c.962C>T	XP_011537083.1:p.Thr321Ile
XM_011538778.2:c.1613C>T	XP_011537080.1:p.Thr538Ile
XM_011538780.2:c.1514C>T	XP_011537082.1:p.Thr505Ile
XR_001748875.2:n.1628C>T
NM_015665.6:c.1571C>T MANE Select	NP_056480.1:p.Thr524Ile
NM_001173466.2:c.1472C>T	NP_001166937.1:p.Thr491Ile