Canonical Allele Identifier: CA385036991

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701450A>C (hg19) ; chr12:g.53307666A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307666A>C , CM000674.2:g.53307666A>C	GRCh38
NC_000012.11:g.53701450A>C , CM000674.1:g.53701450A>C	GRCh37
NC_000012.10:g.51987717A>C	NCBI36
NG_016775.1:g.18963T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1464T>G MANE Select	ENSP00000209873.4:p.Asn488Lys
ENST00000546562.6:n.2528T>G
ENST00000547238.6:n.2100T>G
ENST00000547520.6:n.1580T>G
ENST00000547757.2:c.*382T>G	ENSP00000448020.2:n.*382T>G
ENST00000548880.2:n.1914T>G
ENST00000548931.6:c.899T>G	ENSP00000457518.1:p.Met300Arg
ENST00000549450.6:n.1398T>G
ENST00000552161.6:n.2542T>G
ENST00000672797.1:n.1953T>G
ENST00000209873.8:c.1464T>G	ENSP00000209873.4:p.Asn488Lys
ENST00000394384.7:c.1365T>G	ENSP00000377908.3:p.Asn455Lys
ENST00000548931.5:c.899T>G	ENSP00000457518.1:p.Met300Arg
ENST00000550286.5:c.1092T>G	ENSP00000446885.1:p.Asn364Lys
ENST00000552876.5:n.1807T>G
NM_001173466.1:c.1365T>G	NP_001166937.1:p.Asn455Lys
NM_015665.5:c.1464T>G	NP_056480.1:p.Asn488Lys
XM_006719617.2:c.1479T>G	XP_006719680.1:p.Asn493Lys
XM_011538777.1:c.1521T>G	XP_011537079.1:p.Asn507Lys
XM_011538778.1:c.1506T>G	XP_011537080.1:p.Asn502Lys
XM_011538779.1:c.1422T>G	XP_011537081.1:p.Asn474Lys
XM_011538780.1:c.1407T>G	XP_011537082.1:p.Asn469Lys
XM_011538781.1:c.855T>G	XP_011537083.1:p.Asn285Lys
XM_011538778.2:c.1506T>G	XP_011537080.1:p.Asn502Lys
XM_011538780.2:c.1407T>G	XP_011537082.1:p.Asn469Lys
XR_001748875.2:n.1521T>G
NM_015665.6:c.1464T>G MANE Select	NP_056480.1:p.Asn488Lys
NM_001173466.2:c.1365T>G	NP_001166937.1:p.Asn455Lys