Canonical Allele Identifier: CA385036999

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701451T>G (hg19) ; chr12:g.53307667T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307667T>G , CM000674.2:g.53307667T>G	GRCh38
NC_000012.11:g.53701451T>G , CM000674.1:g.53701451T>G	GRCh37
NC_000012.10:g.51987718T>G	NCBI36
NG_016775.1:g.18962A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1463A>C MANE Select	ENSP00000209873.4:p.Asn488Thr
ENST00000546562.6:n.2527A>C
ENST00000547238.6:n.2099A>C
ENST00000547520.6:n.1579A>C
ENST00000547757.2:c.*381A>C	ENSP00000448020.2:n.*381A>C
ENST00000548880.2:n.1913A>C
ENST00000548931.6:c.898A>C	ENSP00000457518.1:p.Met300Leu
ENST00000549450.6:n.1397A>C
ENST00000552161.6:n.2541A>C
ENST00000672797.1:n.1952A>C
ENST00000209873.8:c.1463A>C	ENSP00000209873.4:p.Asn488Thr
ENST00000394384.7:c.1364A>C	ENSP00000377908.3:p.Asn455Thr
ENST00000548931.5:c.898A>C	ENSP00000457518.1:p.Met300Leu
ENST00000550286.5:c.1091A>C	ENSP00000446885.1:p.Asn364Thr
ENST00000552876.5:n.1806A>C
NM_001173466.1:c.1364A>C	NP_001166937.1:p.Asn455Thr
NM_015665.5:c.1463A>C	NP_056480.1:p.Asn488Thr
XM_006719617.2:c.1478A>C	XP_006719680.1:p.Asn493Thr
XM_011538777.1:c.1520A>C	XP_011537079.1:p.Asn507Thr
XM_011538778.1:c.1505A>C	XP_011537080.1:p.Asn502Thr
XM_011538779.1:c.1421A>C	XP_011537081.1:p.Asn474Thr
XM_011538780.1:c.1406A>C	XP_011537082.1:p.Asn469Thr
XM_011538781.1:c.854A>C	XP_011537083.1:p.Asn285Thr
XM_011538778.2:c.1505A>C	XP_011537080.1:p.Asn502Thr
XM_011538780.2:c.1406A>C	XP_011537082.1:p.Asn469Thr
XR_001748875.2:n.1520A>C
NM_015665.6:c.1463A>C MANE Select	NP_056480.1:p.Asn488Thr
NM_001173466.2:c.1364A>C	NP_001166937.1:p.Asn455Thr