Canonical Allele Identifier: CA385040595

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702565A>T (hg19) ; chr12:g.53308781A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308781A>T , CM000674.2:g.53308781A>T	GRCh38
NC_000012.11:g.53702565A>T , CM000674.1:g.53702565A>T	GRCh37
NC_000012.10:g.51988832A>T	NCBI36
NG_016775.1:g.17848T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1031T>A MANE Select	ENSP00000209873.4:p.Leu344Gln
ENST00000546393.7:n.1876T>A
ENST00000546562.6:n.2095T>A
ENST00000547238.6:n.1667T>A
ENST00000547520.6:n.1025T>A
ENST00000547757.2:c.80T>A	ENSP00000448020.2:p.Leu27Gln
ENST00000548880.2:n.1481T>A
ENST00000548931.6:c.551T>A	ENSP00000457518.1:p.Leu184Gln
ENST00000549450.6:n.965T>A
ENST00000552161.6:n.1987T>A
ENST00000672797.1:n.1520T>A
ENST00000672900.1:n.1973T>A
ENST00000209873.8:c.1031T>A	ENSP00000209873.4:p.Leu344Gln
ENST00000394384.7:c.932T>A	ENSP00000377908.3:p.Leu311Gln
ENST00000547520.5:n.735T>A
ENST00000548931.5:c.551T>A	ENSP00000457518.1:p.Leu184Gln
ENST00000550033.5:n.286T>A
ENST00000550286.5:c.659T>A	ENSP00000446885.1:p.Leu220Gln
ENST00000552876.5:n.1374T>A
NM_001173466.1:c.932T>A	NP_001166937.1:p.Leu311Gln
NM_015665.5:c.1031T>A	NP_056480.1:p.Leu344Gln
XM_006719617.2:c.1046T>A	XP_006719680.1:p.Leu349Gln
XM_006719619.2:c.*41T>A	XP_006719682.1:n.*41T>A
XM_011538777.1:c.1046T>A	XP_011537079.1:p.Leu349Gln
XM_011538778.1:c.1031T>A	XP_011537080.1:p.Leu344Gln
XM_011538779.1:c.947T>A	XP_011537081.1:p.Leu316Gln
XM_011538780.1:c.932T>A	XP_011537082.1:p.Leu311Gln
XM_011538781.1:c.380T>A	XP_011537083.1:p.Leu127Gln
XM_011538778.2:c.1031T>A	XP_011537080.1:p.Leu344Gln
XM_011538780.2:c.932T>A	XP_011537082.1:p.Leu311Gln
XR_001748875.2:n.1088T>A
NM_015665.6:c.1031T>A MANE Select	NP_056480.1:p.Leu344Gln
NM_001173466.2:c.932T>A	NP_001166937.1:p.Leu311Gln