Canonical Allele Identifier: CA385035320

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701405T>C (hg19) ; chr12:g.53307621T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307621T>C , CM000674.2:g.53307621T>C	GRCh38
NC_000012.11:g.53701405T>C , CM000674.1:g.53701405T>C	GRCh37
NC_000012.10:g.51987672T>C	NCBI36
NG_016775.1:g.19008A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1509A>G MANE Select	ENSP00000209873.4:p.Glu503=
ENST00000546562.6:n.2573A>G
ENST00000547238.6:n.2145A>G
ENST00000547520.6:n.1625A>G
ENST00000547757.2:c.*427A>G	ENSP00000448020.2:n.*427A>G
ENST00000548931.6:c.944A>G	ENSP00000457518.1:p.Asn315Ser
ENST00000549450.6:n.1443A>G
ENST00000672797.1:n.1998A>G
ENST00000209873.8:c.1509A>G	ENSP00000209873.4:p.Glu503=
ENST00000394384.7:c.1410A>G	ENSP00000377908.3:p.Glu470=
ENST00000548931.5:c.944A>G	ENSP00000457518.1:p.Asn315Ser
ENST00000550286.5:c.1137A>G	ENSP00000446885.1:p.Glu379=
ENST00000552876.5:n.1852A>G
NM_001173466.1:c.1410A>G	NP_001166937.1:p.Glu470=
NM_015665.5:c.1509A>G	NP_056480.1:p.Glu503=
XM_006719617.2:c.1524A>G	XP_006719680.1:p.Glu508=
XM_011538777.1:c.1566A>G	XP_011537079.1:p.Glu522=
XM_011538778.1:c.1551A>G	XP_011537080.1:p.Glu517=
XM_011538779.1:c.1467A>G	XP_011537081.1:p.Glu489=
XM_011538780.1:c.1452A>G	XP_011537082.1:p.Glu484=
XM_011538781.1:c.900A>G	XP_011537083.1:p.Glu300=
XM_011538778.2:c.1551A>G	XP_011537080.1:p.Glu517=
XM_011538780.2:c.1452A>G	XP_011537082.1:p.Glu484=
XR_001748875.2:n.1566A>G
NM_015665.6:c.1509A>G MANE Select	NP_056480.1:p.Glu503=
NM_001173466.2:c.1410A>G	NP_001166937.1:p.Glu470=