Canonical Allele Identifier: CA479918613

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702792G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309008G>C , CM000674.2:g.53309008G>C	GRCh38
NC_000012.11:g.53702792G>C , CM000674.1:g.53702792G>C	GRCh37
NC_000012.10:g.51989059G>C	NCBI36
NG_016775.1:g.17621C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.948C>G MANE Select	ENSP00000209873.4:p.Ala316=
ENST00000546393.7:n.1793C>G
ENST00000546562.6:n.2012C>G
ENST00000547238.6:n.1584C>G
ENST00000547520.6:n.942C>G
ENST00000547757.2:c.-4C>G	ENSP00000448020.2:n.-4C>G
ENST00000548880.2:n.1398C>G
ENST00000548931.6:c.468C>G	ENSP00000457518.1:p.Ala156=
ENST00000549450.6:n.882C>G
ENST00000552161.6:n.1904C>G
ENST00000672797.1:n.1401C>G
ENST00000672900.1:n.1746C>G
ENST00000209873.8:c.948C>G	ENSP00000209873.4:p.Ala316=
ENST00000394384.7:c.849C>G	ENSP00000377908.3:p.Ala283=
ENST00000546572.1:n.536C>G
ENST00000547520.5:n.652C>G
ENST00000548931.5:c.468C>G	ENSP00000457518.1:p.Ala156=
ENST00000550033.5:n.203C>G
ENST00000550286.5:c.576C>G	ENSP00000446885.1:p.Ala192=
ENST00000552876.5:n.1291C>G
NM_001173466.1:c.849C>G	NP_001166937.1:p.Ala283=
NM_015665.5:c.948C>G	NP_056480.1:p.Ala316=
XM_006719617.2:c.963C>G	XP_006719680.1:p.Ala321=
XM_006719619.2:c.963C>G	XP_006719682.1:p.Ala321=
XM_011538777.1:c.963C>G	XP_011537079.1:p.Ala321=
XM_011538778.1:c.948C>G	XP_011537080.1:p.Ala316=
XM_011538779.1:c.864C>G	XP_011537081.1:p.Ala288=
XM_011538780.1:c.849C>G	XP_011537082.1:p.Ala283=
XM_011538781.1:c.297C>G	XP_011537083.1:p.Ala99=
XM_011538778.2:c.948C>G	XP_011537080.1:p.Ala316=
XM_011538780.2:c.849C>G	XP_011537082.1:p.Ala283=
XR_001748875.2:n.969C>G
NM_015665.6:c.948C>G MANE Select	NP_056480.1:p.Ala316=
NM_001173466.2:c.849C>G	NP_001166937.1:p.Ala283=