Canonical Allele Identifier: CA385044579

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53709559C>G (hg19) ; chr12:g.53315775C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53315775C>G , CM000674.2:g.53315775C>G	GRCh38
NC_000012.11:g.53709559C>G , CM000674.1:g.53709559C>G	GRCh37
NC_000012.10:g.51995826C>G	NCBI36
NG_016775.1:g.10854G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.259G>C MANE Select	ENSP00000209873.4:p.Val87Leu
ENST00000546393.7:n.357G>C
ENST00000546562.6:n.276G>C
ENST00000547238.6:n.701G>C
ENST00000547520.6:n.193G>C
ENST00000547757.2:c.-594G>C	ENSP00000448020.2:n.-594G>C
ENST00000548880.2:n.409G>C
ENST00000549450.6:n.193G>C
ENST00000552161.6:n.721G>C
ENST00000672797.1:n.712G>C
ENST00000672900.1:n.10G>C
ENST00000209873.8:c.259G>C	ENSP00000209873.4:p.Val87Leu
ENST00000394384.7:c.259G>C	ENSP00000377908.3:p.Val87Leu
ENST00000546562.5:n.276G>C
ENST00000547238.5:n.652G>C
ENST00000547757.1:c.259G>C	ENSP00000448020.1:p.Val87Leu
ENST00000547761.6:n.243G>C
ENST00000548258.5:n.287G>C
ENST00000548880.1:n.354G>C
ENST00000549450.5:n.193G>C
ENST00000549821.5:n.257G>C
ENST00000549983.5:n.282G>C
ENST00000550286.5:c.-22G>C	ENSP00000446885.1:n.-22G>C
ENST00000551724.5:n.309G>C
ENST00000552161.5:n.354G>C
ENST00000552876.5:n.701G>C
NM_001173466.1:c.259G>C	NP_001166937.1:p.Val87Leu
NM_015665.5:c.259G>C	NP_056480.1:p.Val87Leu
XM_006719617.2:c.274G>C	XP_006719680.1:p.Val92Leu
XM_006719619.2:c.274G>C	XP_006719682.1:p.Val92Leu
XM_011538777.1:c.274G>C	XP_011537079.1:p.Val92Leu
XM_011538778.1:c.259G>C	XP_011537080.1:p.Val87Leu
XM_011538779.1:c.274G>C	XP_011537081.1:p.Val92Leu
XM_011538780.1:c.259G>C	XP_011537082.1:p.Val87Leu
XM_011538778.2:c.259G>C	XP_011537080.1:p.Val87Leu
XM_011538780.2:c.259G>C	XP_011537082.1:p.Val87Leu
XR_001748875.2:n.379G>C
NM_015665.6:c.259G>C MANE Select	NP_056480.1:p.Val87Leu
NM_001173466.2:c.259G>C	NP_001166937.1:p.Val87Leu