Canonical Allele Identifier: CA479918499

Gene: AAAS

Linked Data

• ClinVar Variation Id: 881292
• ClinVar RCV Id: RCV001110210 ; RCV003769121
• dbSNP Id: rs1174765635
• gnomAD v3: 12-53308975-T-C
• gnomAD v4: 12-53308975-T-C
• MyVariant Identifiers: chr12:g.53702759T>C (hg19) ; chr12:g.53308975T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308975T>C , CM000674.2:g.53308975T>C	GRCh38
NC_000012.11:g.53702759T>C , CM000674.1:g.53702759T>C	GRCh37
NC_000012.10:g.51989026T>C	NCBI36
NG_016775.1:g.17654A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000209873.9:c.981A>G MANE Select	ENSP00000209873.4:p.Leu327=
ENST00000546393.7:n.1826A>G
ENST00000546562.6:n.2045A>G
ENST00000547238.6:n.1617A>G
ENST00000547520.6:n.975A>G
ENST00000547757.2:c.30A>G	ENSP00000448020.2:p.Leu10=
ENST00000548880.2:n.1431A>G
ENST00000548931.6:c.501A>G	ENSP00000457518.1:p.Leu167=
ENST00000549450.6:n.915A>G
ENST00000552161.6:n.1937A>G
ENST00000672797.1:n.1434A>G
ENST00000672900.1:n.1779A>G
ENST00000209873.8:c.981A>G	ENSP00000209873.4:p.Leu327=
ENST00000394384.7:c.882A>G	ENSP00000377908.3:p.Leu294=
ENST00000546572.1:n.569A>G
ENST00000547520.5:n.685A>G
ENST00000548931.5:c.501A>G	ENSP00000457518.1:p.Leu167=
ENST00000550033.5:n.236A>G
ENST00000550286.5:c.609A>G	ENSP00000446885.1:p.Leu203=
ENST00000552876.5:n.1324A>G
NM_001173466.1:c.882A>G	NP_001166937.1:p.Leu294=
NM_015665.5:c.981A>G	NP_056480.1:p.Leu327=
XM_006719617.2:c.996A>G	XP_006719680.1:p.Leu332=
XM_006719619.2:c.996A>G	XP_006719682.1:p.Leu332=
XM_011538777.1:c.996A>G	XP_011537079.1:p.Leu332=
XM_011538778.1:c.981A>G	XP_011537080.1:p.Leu327=
XM_011538779.1:c.897A>G	XP_011537081.1:p.Leu299=
XM_011538780.1:c.882A>G	XP_011537082.1:p.Leu294=
XM_011538781.1:c.330A>G	XP_011537083.1:p.Leu110=
XM_011538778.2:c.981A>G	XP_011537080.1:p.Leu327=
XM_011538780.2:c.882A>G	XP_011537082.1:p.Leu294=
XR_001748875.2:n.1002A>G
NM_015665.6:c.981A>G MANE Select	NP_056480.1:p.Leu327=
NM_001173466.2:c.882A>G	NP_001166937.1:p.Leu294=