Canonical Allele Identifier: CA385034415

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701278G>T (hg19) ; chr12:g.53307494G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307494G>T , CM000674.2:g.53307494G>T	GRCh38
NC_000012.11:g.53701278G>T , CM000674.1:g.53701278G>T	GRCh37
NC_000012.10:g.51987545G>T	NCBI36
NG_016775.1:g.19135C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1636C>A MANE Select	ENSP00000209873.4:p.Leu546Ile
ENST00000547757.2:c.*554C>A	ENSP00000448020.2:n.*554C>A
ENST00000548931.6:c.1071C>A	ENSP00000457518.1:p.Thr357=
ENST00000549450.6:n.1570C>A
ENST00000209873.8:c.1636C>A	ENSP00000209873.4:p.Leu546Ile
ENST00000394384.7:c.1537C>A	ENSP00000377908.3:p.Leu513Ile
ENST00000548931.5:c.1071C>A	ENSP00000457518.1:p.Thr357=
ENST00000550286.5:c.1264C>A	ENSP00000446885.1:p.Leu422Ile
ENST00000552876.5:n.1979C>A
NM_001173466.1:c.1537C>A	NP_001166937.1:p.Leu513Ile
NM_015665.5:c.1636C>A	NP_056480.1:p.Leu546Ile
XM_006719617.2:c.1651C>A	XP_006719680.1:p.Leu551Ile
XM_011538777.1:c.1693C>A	XP_011537079.1:p.Leu565Ile
XM_011538778.1:c.1678C>A	XP_011537080.1:p.Leu560Ile
XM_011538779.1:c.1594C>A	XP_011537081.1:p.Leu532Ile
XM_011538780.1:c.1579C>A	XP_011537082.1:p.Leu527Ile
XM_011538781.1:c.1027C>A	XP_011537083.1:p.Leu343Ile
XM_011538778.2:c.1678C>A	XP_011537080.1:p.Leu560Ile
XM_011538780.2:c.1579C>A	XP_011537082.1:p.Leu527Ile
XR_001748875.2:n.1693C>A
NM_015665.6:c.1636C>A MANE Select	NP_056480.1:p.Leu546Ile
NM_001173466.2:c.1537C>A	NP_001166937.1:p.Leu513Ile