Canonical Allele Identifier: CA385035305

Gene: AAAS

Linked Data

• gnomAD v4: 12-53307619-G-T
• MyVariant Identifiers: chr12:g.53701403G>T (hg19) ; chr12:g.53307619G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307619G>T , CM000674.2:g.53307619G>T	GRCh38
NC_000012.11:g.53701403G>T , CM000674.1:g.53701403G>T	GRCh37
NC_000012.10:g.51987670G>T	NCBI36
NG_016775.1:g.19010C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1511C>A MANE Select	ENSP00000209873.4:p.Pro504His
ENST00000546562.6:n.2575C>A
ENST00000547238.6:n.2147C>A
ENST00000547520.6:n.1627C>A
ENST00000547757.2:c.*429C>A	ENSP00000448020.2:n.*429C>A
ENST00000548931.6:c.946C>A	ENSP00000457518.1:p.Pro316Thr
ENST00000549450.6:n.1445C>A
ENST00000672797.1:n.2000C>A
ENST00000209873.8:c.1511C>A	ENSP00000209873.4:p.Pro504His
ENST00000394384.7:c.1412C>A	ENSP00000377908.3:p.Pro471His
ENST00000548931.5:c.946C>A	ENSP00000457518.1:p.Pro316Thr
ENST00000550286.5:c.1139C>A	ENSP00000446885.1:p.Pro380His
ENST00000552876.5:n.1854C>A
NM_001173466.1:c.1412C>A	NP_001166937.1:p.Pro471His
NM_015665.5:c.1511C>A	NP_056480.1:p.Pro504His
XM_006719617.2:c.1526C>A	XP_006719680.1:p.Pro509His
XM_011538777.1:c.1568C>A	XP_011537079.1:p.Pro523His
XM_011538778.1:c.1553C>A	XP_011537080.1:p.Pro518His
XM_011538779.1:c.1469C>A	XP_011537081.1:p.Pro490His
XM_011538780.1:c.1454C>A	XP_011537082.1:p.Pro485His
XM_011538781.1:c.902C>A	XP_011537083.1:p.Pro301His
XM_011538778.2:c.1553C>A	XP_011537080.1:p.Pro518His
XM_011538780.2:c.1454C>A	XP_011537082.1:p.Pro485His
XR_001748875.2:n.1568C>A
NM_015665.6:c.1511C>A MANE Select	NP_056480.1:p.Pro504His
NM_001173466.2:c.1412C>A	NP_001166937.1:p.Pro471His