Canonical Allele Identifier: CA385040623

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702569G>T (hg19) ; chr12:g.53308785G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308785G>T , CM000674.2:g.53308785G>T	GRCh38
NC_000012.11:g.53702569G>T , CM000674.1:g.53702569G>T	GRCh37
NC_000012.10:g.51988836G>T	NCBI36
NG_016775.1:g.17844C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1027C>A MANE Select	ENSP00000209873.4:p.Leu343Met
ENST00000546393.7:n.1872C>A
ENST00000546562.6:n.2091C>A
ENST00000547238.6:n.1663C>A
ENST00000547520.6:n.1021C>A
ENST00000547757.2:c.76C>A	ENSP00000448020.2:p.Leu26Met
ENST00000548880.2:n.1477C>A
ENST00000548931.6:c.547C>A	ENSP00000457518.1:p.Leu183Met
ENST00000549450.6:n.961C>A
ENST00000552161.6:n.1983C>A
ENST00000672797.1:n.1516C>A
ENST00000672900.1:n.1969C>A
ENST00000209873.8:c.1027C>A	ENSP00000209873.4:p.Leu343Met
ENST00000394384.7:c.928C>A	ENSP00000377908.3:p.Leu310Met
ENST00000547520.5:n.731C>A
ENST00000548931.5:c.547C>A	ENSP00000457518.1:p.Leu183Met
ENST00000550033.5:n.282C>A
ENST00000550286.5:c.655C>A	ENSP00000446885.1:p.Leu219Met
ENST00000552876.5:n.1370C>A
NM_001173466.1:c.928C>A	NP_001166937.1:p.Leu310Met
NM_015665.5:c.1027C>A	NP_056480.1:p.Leu343Met
XM_006719617.2:c.1042C>A	XP_006719680.1:p.Leu348Met
XM_006719619.2:c.*37C>A	XP_006719682.1:n.*37C>A
XM_011538777.1:c.1042C>A	XP_011537079.1:p.Leu348Met
XM_011538778.1:c.1027C>A	XP_011537080.1:p.Leu343Met
XM_011538779.1:c.943C>A	XP_011537081.1:p.Leu315Met
XM_011538780.1:c.928C>A	XP_011537082.1:p.Leu310Met
XM_011538781.1:c.376C>A	XP_011537083.1:p.Leu126Met
XM_011538778.2:c.1027C>A	XP_011537080.1:p.Leu343Met
XM_011538780.2:c.928C>A	XP_011537082.1:p.Leu310Met
XR_001748875.2:n.1084C>A
NM_015665.6:c.1027C>A MANE Select	NP_056480.1:p.Leu343Met
NM_001173466.2:c.928C>A	NP_001166937.1:p.Leu310Met