Canonical Allele Identifier: CA385041802

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702968A>T (hg19) ; chr12:g.53309184A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309184A>T , CM000674.2:g.53309184A>T	GRCh38
NC_000012.11:g.53702968A>T , CM000674.1:g.53702968A>T	GRCh37
NC_000012.10:g.51989235A>T	NCBI36
NG_016775.1:g.17445T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.908T>A MANE Select	ENSP00000209873.4:p.Leu303Gln
ENST00000546393.7:n.1753T>A
ENST00000546562.6:n.1972T>A
ENST00000547238.6:n.1544T>A
ENST00000547520.6:n.902T>A
ENST00000547757.2:c.-44T>A	ENSP00000448020.2:n.-44T>A
ENST00000548880.2:n.1358T>A
ENST00000548931.6:c.428T>A	ENSP00000457518.1:p.Leu143Gln
ENST00000549450.6:n.842T>A
ENST00000552161.6:n.1864T>A
ENST00000672797.1:n.1361T>A
ENST00000672900.1:n.1706T>A
ENST00000209873.8:c.908T>A	ENSP00000209873.4:p.Leu303Gln
ENST00000394384.7:c.809T>A	ENSP00000377908.3:p.Leu270Gln
ENST00000546393.6:n.805T>A
ENST00000546572.1:n.360T>A
ENST00000547520.5:n.612T>A
ENST00000547757.1:c.809T>A	ENSP00000448020.1:p.Leu270Gln
ENST00000547761.6:n.800T>A
ENST00000548931.5:c.428T>A	ENSP00000457518.1:p.Leu143Gln
ENST00000550033.5:n.163T>A
ENST00000550286.5:c.536T>A	ENSP00000446885.1:p.Leu179Gln
ENST00000552876.5:n.1251T>A
NM_001173466.1:c.809T>A	NP_001166937.1:p.Leu270Gln
NM_015665.5:c.908T>A	NP_056480.1:p.Leu303Gln
XM_006719617.2:c.923T>A	XP_006719680.1:p.Leu308Gln
XM_006719619.2:c.923T>A	XP_006719682.1:p.Leu308Gln
XM_011538777.1:c.923T>A	XP_011537079.1:p.Leu308Gln
XM_011538778.1:c.908T>A	XP_011537080.1:p.Leu303Gln
XM_011538779.1:c.824T>A	XP_011537081.1:p.Leu275Gln
XM_011538780.1:c.809T>A	XP_011537082.1:p.Leu270Gln
XM_011538781.1:c.257T>A	XP_011537083.1:p.Leu86Gln
XM_011538778.2:c.908T>A	XP_011537080.1:p.Leu303Gln
XM_011538780.2:c.809T>A	XP_011537082.1:p.Leu270Gln
XR_001748875.2:n.929T>A
NM_015665.6:c.908T>A MANE Select	NP_056480.1:p.Leu303Gln
NM_001173466.2:c.809T>A	NP_001166937.1:p.Leu270Gln