Canonical Allele Identifier: CA385040843

Gene: AAAS

Linked Data

• gnomAD v4: 12-53308812-C-T
• MyVariant Identifiers: chr12:g.53702596C>T (hg19) ; chr12:g.53308812C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308812C>T , CM000674.2:g.53308812C>T	GRCh38
NC_000012.11:g.53702596C>T , CM000674.1:g.53702596C>T	GRCh37
NC_000012.10:g.51988863C>T	NCBI36
NG_016775.1:g.17817G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1000G>A MANE Select	ENSP00000209873.4:p.Gly334Ser
ENST00000546393.7:n.1845G>A
ENST00000546562.6:n.2064G>A
ENST00000547238.6:n.1636G>A
ENST00000547520.6:n.994G>A
ENST00000547757.2:c.49G>A	ENSP00000448020.2:p.Gly17Ser
ENST00000548880.2:n.1450G>A
ENST00000548931.6:c.520G>A	ENSP00000457518.1:p.Gly174Ser
ENST00000549450.6:n.934G>A
ENST00000552161.6:n.1956G>A
ENST00000672797.1:n.1489G>A
ENST00000672900.1:n.1942G>A
ENST00000209873.8:c.1000G>A	ENSP00000209873.4:p.Gly334Ser
ENST00000394384.7:c.901G>A	ENSP00000377908.3:p.Gly301Ser
ENST00000547520.5:n.704G>A
ENST00000548931.5:c.520G>A	ENSP00000457518.1:p.Gly174Ser
ENST00000550033.5:n.255G>A
ENST00000550286.5:c.628G>A	ENSP00000446885.1:p.Gly210Ser
ENST00000552876.5:n.1343G>A
NM_001173466.1:c.901G>A	NP_001166937.1:p.Gly301Ser
NM_015665.5:c.1000G>A	NP_056480.1:p.Gly334Ser
XM_006719617.2:c.1015G>A	XP_006719680.1:p.Gly339Ser
XM_006719619.2:c.*10G>A	XP_006719682.1:n.*10G>A
XM_011538777.1:c.1015G>A	XP_011537079.1:p.Gly339Ser
XM_011538778.1:c.1000G>A	XP_011537080.1:p.Gly334Ser
XM_011538779.1:c.916G>A	XP_011537081.1:p.Gly306Ser
XM_011538780.1:c.901G>A	XP_011537082.1:p.Gly301Ser
XM_011538781.1:c.349G>A	XP_011537083.1:p.Gly117Ser
XM_011538778.2:c.1000G>A	XP_011537080.1:p.Gly334Ser
XM_011538780.2:c.901G>A	XP_011537082.1:p.Gly301Ser
XR_001748875.2:n.1057G>A
NM_015665.6:c.1000G>A MANE Select	NP_056480.1:p.Gly334Ser
NM_001173466.2:c.901G>A	NP_001166937.1:p.Gly301Ser