Canonical Allele Identifier: CA385035287

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701400G>C (hg19) ; chr12:g.53307616G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307616G>C , CM000674.2:g.53307616G>C	GRCh38
NC_000012.11:g.53701400G>C , CM000674.1:g.53701400G>C	GRCh37
NC_000012.10:g.51987667G>C	NCBI36
NG_016775.1:g.19013C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1514C>G MANE Select	ENSP00000209873.4:p.Pro505Arg
ENST00000546562.6:n.2578C>G
ENST00000547238.6:n.2150C>G
ENST00000547520.6:n.1630C>G
ENST00000547757.2:c.*432C>G	ENSP00000448020.2:n.*432C>G
ENST00000548931.6:c.949C>G	ENSP00000457518.1:p.Leu317Val
ENST00000549450.6:n.1448C>G
ENST00000672797.1:n.2003C>G
ENST00000209873.8:c.1514C>G	ENSP00000209873.4:p.Pro505Arg
ENST00000394384.7:c.1415C>G	ENSP00000377908.3:p.Pro472Arg
ENST00000548931.5:c.949C>G	ENSP00000457518.1:p.Leu317Val
ENST00000550286.5:c.1142C>G	ENSP00000446885.1:p.Pro381Arg
ENST00000552876.5:n.1857C>G
NM_001173466.1:c.1415C>G	NP_001166937.1:p.Pro472Arg
NM_015665.5:c.1514C>G	NP_056480.1:p.Pro505Arg
XM_006719617.2:c.1529C>G	XP_006719680.1:p.Pro510Arg
XM_011538777.1:c.1571C>G	XP_011537079.1:p.Pro524Arg
XM_011538778.1:c.1556C>G	XP_011537080.1:p.Pro519Arg
XM_011538779.1:c.1472C>G	XP_011537081.1:p.Pro491Arg
XM_011538780.1:c.1457C>G	XP_011537082.1:p.Pro486Arg
XM_011538781.1:c.905C>G	XP_011537083.1:p.Pro302Arg
XM_011538778.2:c.1556C>G	XP_011537080.1:p.Pro519Arg
XM_011538780.2:c.1457C>G	XP_011537082.1:p.Pro486Arg
XR_001748875.2:n.1571C>G
NM_015665.6:c.1514C>G MANE Select	NP_056480.1:p.Pro505Arg
NM_001173466.2:c.1415C>G	NP_001166937.1:p.Pro472Arg