Canonical Allele Identifier: CA385040615

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702568A>C (hg19) ; chr12:g.53308784A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308784A>C , CM000674.2:g.53308784A>C	GRCh38
NC_000012.11:g.53702568A>C , CM000674.1:g.53702568A>C	GRCh37
NC_000012.10:g.51988835A>C	NCBI36
NG_016775.1:g.17845T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1028T>G MANE Select	ENSP00000209873.4:p.Leu343Arg
ENST00000546393.7:n.1873T>G
ENST00000546562.6:n.2092T>G
ENST00000547238.6:n.1664T>G
ENST00000547520.6:n.1022T>G
ENST00000547757.2:c.77T>G	ENSP00000448020.2:p.Leu26Arg
ENST00000548880.2:n.1478T>G
ENST00000548931.6:c.548T>G	ENSP00000457518.1:p.Leu183Arg
ENST00000549450.6:n.962T>G
ENST00000552161.6:n.1984T>G
ENST00000672797.1:n.1517T>G
ENST00000672900.1:n.1970T>G
ENST00000209873.8:c.1028T>G	ENSP00000209873.4:p.Leu343Arg
ENST00000394384.7:c.929T>G	ENSP00000377908.3:p.Leu310Arg
ENST00000547520.5:n.732T>G
ENST00000548931.5:c.548T>G	ENSP00000457518.1:p.Leu183Arg
ENST00000550033.5:n.283T>G
ENST00000550286.5:c.656T>G	ENSP00000446885.1:p.Leu219Arg
ENST00000552876.5:n.1371T>G
NM_001173466.1:c.929T>G	NP_001166937.1:p.Leu310Arg
NM_015665.5:c.1028T>G	NP_056480.1:p.Leu343Arg
XM_006719617.2:c.1043T>G	XP_006719680.1:p.Leu348Arg
XM_006719619.2:c.*38T>G	XP_006719682.1:n.*38T>G
XM_011538777.1:c.1043T>G	XP_011537079.1:p.Leu348Arg
XM_011538778.1:c.1028T>G	XP_011537080.1:p.Leu343Arg
XM_011538779.1:c.944T>G	XP_011537081.1:p.Leu315Arg
XM_011538780.1:c.929T>G	XP_011537082.1:p.Leu310Arg
XM_011538781.1:c.377T>G	XP_011537083.1:p.Leu126Arg
XM_011538778.2:c.1028T>G	XP_011537080.1:p.Leu343Arg
XM_011538780.2:c.929T>G	XP_011537082.1:p.Leu310Arg
XR_001748875.2:n.1085T>G
NM_015665.6:c.1028T>G MANE Select	NP_056480.1:p.Leu343Arg
NM_001173466.2:c.929T>G	NP_001166937.1:p.Leu310Arg