Canonical Allele Identifier: CA385035313

Gene: AAAS

Linked Data

• dbSNP Id: rs1944306611
• gnomAD v4: 12-53307620-G-T
• MyVariant Identifiers: chr12:g.53701404G>T (hg19) ; chr12:g.53307620G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307620G>T , CM000674.2:g.53307620G>T	GRCh38
NC_000012.11:g.53701404G>T , CM000674.1:g.53701404G>T	GRCh37
NC_000012.10:g.51987671G>T	NCBI36
NG_016775.1:g.19009C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1510C>A MANE Select	ENSP00000209873.4:p.Pro504Thr
ENST00000546562.6:n.2574C>A
ENST00000547238.6:n.2146C>A
ENST00000547520.6:n.1626C>A
ENST00000547757.2:c.*428C>A	ENSP00000448020.2:n.*428C>A
ENST00000548931.6:c.945C>A	ENSP00000457518.1:p.Asn315Lys
ENST00000549450.6:n.1444C>A
ENST00000672797.1:n.1999C>A
ENST00000209873.8:c.1510C>A	ENSP00000209873.4:p.Pro504Thr
ENST00000394384.7:c.1411C>A	ENSP00000377908.3:p.Pro471Thr
ENST00000548931.5:c.945C>A	ENSP00000457518.1:p.Asn315Lys
ENST00000550286.5:c.1138C>A	ENSP00000446885.1:p.Pro380Thr
ENST00000552876.5:n.1853C>A
NM_001173466.1:c.1411C>A	NP_001166937.1:p.Pro471Thr
NM_015665.5:c.1510C>A	NP_056480.1:p.Pro504Thr
XM_006719617.2:c.1525C>A	XP_006719680.1:p.Pro509Thr
XM_011538777.1:c.1567C>A	XP_011537079.1:p.Pro523Thr
XM_011538778.1:c.1552C>A	XP_011537080.1:p.Pro518Thr
XM_011538779.1:c.1468C>A	XP_011537081.1:p.Pro490Thr
XM_011538780.1:c.1453C>A	XP_011537082.1:p.Pro485Thr
XM_011538781.1:c.901C>A	XP_011537083.1:p.Pro301Thr
XM_011538778.2:c.1552C>A	XP_011537080.1:p.Pro518Thr
XM_011538780.2:c.1453C>A	XP_011537082.1:p.Pro485Thr
XR_001748875.2:n.1567C>A
NM_015665.6:c.1510C>A MANE Select	NP_056480.1:p.Pro504Thr
NM_001173466.2:c.1411C>A	NP_001166937.1:p.Pro471Thr