Canonical Allele Identifier: CA479918686

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702946G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309162G>A , CM000674.2:g.53309162G>A	GRCh38
NC_000012.11:g.53702946G>A , CM000674.1:g.53702946G>A	GRCh37
NC_000012.10:g.51989213G>A	NCBI36
NG_016775.1:g.17467C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.930C>T MANE Select	ENSP00000209873.4:p.Val310=
ENST00000546393.7:n.1775C>T
ENST00000546562.6:n.1994C>T
ENST00000547238.6:n.1566C>T
ENST00000547520.6:n.924C>T
ENST00000547757.2:c.-22C>T	ENSP00000448020.2:n.-22C>T
ENST00000548880.2:n.1380C>T
ENST00000548931.6:c.450C>T	ENSP00000457518.1:p.Val150=
ENST00000549450.6:n.864C>T
ENST00000552161.6:n.1886C>T
ENST00000672797.1:n.1383C>T
ENST00000672900.1:n.1728C>T
ENST00000209873.8:c.930C>T	ENSP00000209873.4:p.Val310=
ENST00000394384.7:c.831C>T	ENSP00000377908.3:p.Val277=
ENST00000546393.6:n.827C>T
ENST00000546572.1:n.382C>T
ENST00000547520.5:n.634C>T
ENST00000547757.1:c.831C>T	ENSP00000448020.1:p.Val277=
ENST00000547761.6:n.822C>T
ENST00000548931.5:c.450C>T	ENSP00000457518.1:p.Val150=
ENST00000550033.5:n.185C>T
ENST00000550286.5:c.558C>T	ENSP00000446885.1:p.Val186=
ENST00000552876.5:n.1273C>T
NM_001173466.1:c.831C>T	NP_001166937.1:p.Val277=
NM_015665.5:c.930C>T	NP_056480.1:p.Val310=
XM_006719617.2:c.945C>T	XP_006719680.1:p.Val315=
XM_006719619.2:c.945C>T	XP_006719682.1:p.Val315=
XM_011538777.1:c.945C>T	XP_011537079.1:p.Val315=
XM_011538778.1:c.930C>T	XP_011537080.1:p.Val310=
XM_011538779.1:c.846C>T	XP_011537081.1:p.Val282=
XM_011538780.1:c.831C>T	XP_011537082.1:p.Val277=
XM_011538781.1:c.279C>T	XP_011537083.1:p.Val93=
XM_011538778.2:c.930C>T	XP_011537080.1:p.Val310=
XM_011538780.2:c.831C>T	XP_011537082.1:p.Val277=
XR_001748875.2:n.951C>T
NM_015665.6:c.930C>T MANE Select	NP_056480.1:p.Val310=
NM_001173466.2:c.831C>T	NP_001166937.1:p.Val277=