Canonical Allele Identifier: CA385041791

Gene: AAAS

Linked Data

• gnomAD v4: 12-53309182-C-T
• MyVariant Identifiers: chr12:g.53702966C>T (hg19) ; chr12:g.53309182C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309182C>T , CM000674.2:g.53309182C>T	GRCh38
NC_000012.11:g.53702966C>T , CM000674.1:g.53702966C>T	GRCh37
NC_000012.10:g.51989233C>T	NCBI36
NG_016775.1:g.17447G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.910G>A MANE Select	ENSP00000209873.4:p.Ala304Thr
ENST00000546393.7:n.1755G>A
ENST00000546562.6:n.1974G>A
ENST00000547238.6:n.1546G>A
ENST00000547520.6:n.904G>A
ENST00000547757.2:c.-42G>A	ENSP00000448020.2:n.-42G>A
ENST00000548880.2:n.1360G>A
ENST00000548931.6:c.430G>A	ENSP00000457518.1:p.Ala144Thr
ENST00000549450.6:n.844G>A
ENST00000552161.6:n.1866G>A
ENST00000672797.1:n.1363G>A
ENST00000672900.1:n.1708G>A
ENST00000209873.8:c.910G>A	ENSP00000209873.4:p.Ala304Thr
ENST00000394384.7:c.811G>A	ENSP00000377908.3:p.Ala271Thr
ENST00000546393.6:n.807G>A
ENST00000546572.1:n.362G>A
ENST00000547520.5:n.614G>A
ENST00000547757.1:c.811G>A	ENSP00000448020.1:p.Ala271Thr
ENST00000547761.6:n.802G>A
ENST00000548931.5:c.430G>A	ENSP00000457518.1:p.Ala144Thr
ENST00000550033.5:n.165G>A
ENST00000550286.5:c.538G>A	ENSP00000446885.1:p.Ala180Thr
ENST00000552876.5:n.1253G>A
NM_001173466.1:c.811G>A	NP_001166937.1:p.Ala271Thr
NM_015665.5:c.910G>A	NP_056480.1:p.Ala304Thr
XM_006719617.2:c.925G>A	XP_006719680.1:p.Ala309Thr
XM_006719619.2:c.925G>A	XP_006719682.1:p.Ala309Thr
XM_011538777.1:c.925G>A	XP_011537079.1:p.Ala309Thr
XM_011538778.1:c.910G>A	XP_011537080.1:p.Ala304Thr
XM_011538779.1:c.826G>A	XP_011537081.1:p.Ala276Thr
XM_011538780.1:c.811G>A	XP_011537082.1:p.Ala271Thr
XM_011538781.1:c.259G>A	XP_011537083.1:p.Ala87Thr
XM_011538778.2:c.910G>A	XP_011537080.1:p.Ala304Thr
XM_011538780.2:c.811G>A	XP_011537082.1:p.Ala271Thr
XR_001748875.2:n.931G>A
NM_015665.6:c.910G>A MANE Select	NP_056480.1:p.Ala304Thr
NM_001173466.2:c.811G>A	NP_001166937.1:p.Ala271Thr