Canonical Allele Identifier: CA385034420

Gene: AAAS

Linked Data

• gnomAD v4: 12-53307494-G-A
• MyVariant Identifiers: chr12:g.53701278G>A (hg19) ; chr12:g.53307494G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1636C>T MANE Select	ENSP00000209873.4:p.Leu546Phe
ENST00000547757.2:c.*554C>T	ENSP00000448020.2:n.*554C>T
ENST00000548931.6:c.1071C>T	ENSP00000457518.1:p.Thr357=
ENST00000549450.6:n.1570C>T
ENST00000209873.8:c.1636C>T	ENSP00000209873.4:p.Leu546Phe
ENST00000394384.7:c.1537C>T	ENSP00000377908.3:p.Leu513Phe
ENST00000548931.5:c.1071C>T	ENSP00000457518.1:p.Thr357=
ENST00000550286.5:c.1264C>T	ENSP00000446885.1:p.Leu422Phe
ENST00000552876.5:n.1979C>T
NM_001173466.1:c.1537C>T	NP_001166937.1:p.Leu513Phe
NM_015665.5:c.1636C>T	NP_056480.1:p.Leu546Phe
XM_006719617.2:c.1651C>T	XP_006719680.1:p.Leu551Phe
XM_011538777.1:c.1693C>T	XP_011537079.1:p.Leu565Phe
XM_011538778.1:c.1678C>T	XP_011537080.1:p.Leu560Phe
XM_011538779.1:c.1594C>T	XP_011537081.1:p.Leu532Phe
XM_011538780.1:c.1579C>T	XP_011537082.1:p.Leu527Phe
XM_011538781.1:c.1027C>T	XP_011537083.1:p.Leu343Phe
XM_011538778.2:c.1678C>T	XP_011537080.1:p.Leu560Phe
XM_011538780.2:c.1579C>T	XP_011537082.1:p.Leu527Phe
XR_001748875.2:n.1693C>T
NM_015665.6:c.1636C>T MANE Select	NP_056480.1:p.Leu546Phe
NM_001173466.2:c.1537C>T	NP_001166937.1:p.Leu513Phe