Canonical Allele Identifier: CA479919204

Gene: AAAS

Linked Data

• gnomAD v4: 12-53309183-C-T
• MyVariant Identifiers: chr12:g.53702967C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309183C>T , CM000674.2:g.53309183C>T	GRCh38
NC_000012.11:g.53702967C>T , CM000674.1:g.53702967C>T	GRCh37
NC_000012.10:g.51989234C>T	NCBI36
NG_016775.1:g.17446G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.909G>A MANE Select	ENSP00000209873.4:p.Leu303=
ENST00000546393.7:n.1754G>A
ENST00000546562.6:n.1973G>A
ENST00000547238.6:n.1545G>A
ENST00000547520.6:n.903G>A
ENST00000547757.2:c.-43G>A	ENSP00000448020.2:n.-43G>A
ENST00000548880.2:n.1359G>A
ENST00000548931.6:c.429G>A	ENSP00000457518.1:p.Leu143=
ENST00000549450.6:n.843G>A
ENST00000552161.6:n.1865G>A
ENST00000672797.1:n.1362G>A
ENST00000672900.1:n.1707G>A
ENST00000209873.8:c.909G>A	ENSP00000209873.4:p.Leu303=
ENST00000394384.7:c.810G>A	ENSP00000377908.3:p.Leu270=
ENST00000546393.6:n.806G>A
ENST00000546572.1:n.361G>A
ENST00000547520.5:n.613G>A
ENST00000547757.1:c.810G>A	ENSP00000448020.1:p.Leu270=
ENST00000547761.6:n.801G>A
ENST00000548931.5:c.429G>A	ENSP00000457518.1:p.Leu143=
ENST00000550033.5:n.164G>A
ENST00000550286.5:c.537G>A	ENSP00000446885.1:p.Leu179=
ENST00000552876.5:n.1252G>A
NM_001173466.1:c.810G>A	NP_001166937.1:p.Leu270=
NM_015665.5:c.909G>A	NP_056480.1:p.Leu303=
XM_006719617.2:c.924G>A	XP_006719680.1:p.Leu308=
XM_006719619.2:c.924G>A	XP_006719682.1:p.Leu308=
XM_011538777.1:c.924G>A	XP_011537079.1:p.Leu308=
XM_011538778.1:c.909G>A	XP_011537080.1:p.Leu303=
XM_011538779.1:c.825G>A	XP_011537081.1:p.Leu275=
XM_011538780.1:c.810G>A	XP_011537082.1:p.Leu270=
XM_011538781.1:c.258G>A	XP_011537083.1:p.Leu86=
XM_011538778.2:c.909G>A	XP_011537080.1:p.Leu303=
XM_011538780.2:c.810G>A	XP_011537082.1:p.Leu270=
XR_001748875.2:n.930G>A
NM_015665.6:c.909G>A MANE Select	NP_056480.1:p.Leu303=
NM_001173466.2:c.810G>A	NP_001166937.1:p.Leu270=