Canonical Allele Identifier: CA479918678

Gene: AAAS

Linked Data

• dbSNP Id: rs1944345519
• MyVariant Identifiers: chr12:g.53702943A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309159A>G , CM000674.2:g.53309159A>G	GRCh38
NC_000012.11:g.53702943A>G , CM000674.1:g.53702943A>G	GRCh37
NC_000012.10:g.51989210A>G	NCBI36
NG_016775.1:g.17470T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000209873.9:c.933T>C MANE Select	ENSP00000209873.4:p.Phe311=
ENST00000546393.7:n.1778T>C
ENST00000546562.6:n.1997T>C
ENST00000547238.6:n.1569T>C
ENST00000547520.6:n.927T>C
ENST00000547757.2:c.-19T>C	ENSP00000448020.2:n.-19T>C
ENST00000548880.2:n.1383T>C
ENST00000548931.6:c.453T>C	ENSP00000457518.1:p.Phe151=
ENST00000549450.6:n.867T>C
ENST00000552161.6:n.1889T>C
ENST00000672797.1:n.1386T>C
ENST00000672900.1:n.1731T>C
ENST00000209873.8:c.933T>C	ENSP00000209873.4:p.Phe311=
ENST00000394384.7:c.834T>C	ENSP00000377908.3:p.Phe278=
ENST00000546393.6:n.830T>C
ENST00000546572.1:n.385T>C
ENST00000547520.5:n.637T>C
ENST00000547761.6:n.825T>C
ENST00000548931.5:c.453T>C	ENSP00000457518.1:p.Phe151=
ENST00000550033.5:n.188T>C
ENST00000550286.5:c.561T>C	ENSP00000446885.1:p.Phe187=
ENST00000552876.5:n.1276T>C
NM_001173466.1:c.834T>C	NP_001166937.1:p.Phe278=
NM_015665.5:c.933T>C	NP_056480.1:p.Phe311=
XM_006719617.2:c.948T>C	XP_006719680.1:p.Phe316=
XM_006719619.2:c.948T>C	XP_006719682.1:p.Phe316=
XM_011538777.1:c.948T>C	XP_011537079.1:p.Phe316=
XM_011538778.1:c.933T>C	XP_011537080.1:p.Phe311=
XM_011538779.1:c.849T>C	XP_011537081.1:p.Phe283=
XM_011538780.1:c.834T>C	XP_011537082.1:p.Phe278=
XM_011538781.1:c.282T>C	XP_011537083.1:p.Phe94=
XM_011538778.2:c.933T>C	XP_011537080.1:p.Phe311=
XM_011538780.2:c.834T>C	XP_011537082.1:p.Phe278=
XR_001748875.2:n.954T>C
NM_015665.6:c.933T>C MANE Select	NP_056480.1:p.Phe311=
NM_001173466.2:c.834T>C	NP_001166937.1:p.Phe278=