Canonical Allele Identifier: CA385035070

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701366G>C (hg19) ; chr12:g.53307582G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307582G>C , CM000674.2:g.53307582G>C	GRCh38
NC_000012.11:g.53701366G>C , CM000674.1:g.53701366G>C	GRCh37
NC_000012.10:g.51987633G>C	NCBI36
NG_016775.1:g.19047C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1548C>G MANE Select	ENSP00000209873.4:p.Pro516=
ENST00000546562.6:n.2612C>G
ENST00000547238.6:n.2184C>G
ENST00000547520.6:n.1664C>G
ENST00000547757.2:c.*466C>G	ENSP00000448020.2:n.*466C>G
ENST00000548931.6:c.983C>G	ENSP00000457518.1:p.Pro328Arg
ENST00000549450.6:n.1482C>G
ENST00000672797.1:n.2037C>G
ENST00000209873.8:c.1548C>G	ENSP00000209873.4:p.Pro516=
ENST00000394384.7:c.1449C>G	ENSP00000377908.3:p.Pro483=
ENST00000548931.5:c.983C>G	ENSP00000457518.1:p.Pro328Arg
ENST00000550286.5:c.1176C>G	ENSP00000446885.1:p.Pro392=
ENST00000552876.5:n.1891C>G
NM_001173466.1:c.1449C>G	NP_001166937.1:p.Pro483=
NM_015665.5:c.1548C>G	NP_056480.1:p.Pro516=
XM_006719617.2:c.1563C>G	XP_006719680.1:p.Pro521=
XM_011538777.1:c.1605C>G	XP_011537079.1:p.Pro535=
XM_011538778.1:c.1590C>G	XP_011537080.1:p.Pro530=
XM_011538779.1:c.1506C>G	XP_011537081.1:p.Pro502=
XM_011538780.1:c.1491C>G	XP_011537082.1:p.Pro497=
XM_011538781.1:c.939C>G	XP_011537083.1:p.Pro313=
XM_011538778.2:c.1590C>G	XP_011537080.1:p.Pro530=
XM_011538780.2:c.1491C>G	XP_011537082.1:p.Pro497=
XR_001748875.2:n.1605C>G
NM_015665.6:c.1548C>G MANE Select	NP_056480.1:p.Pro516=
NM_001173466.2:c.1449C>G	NP_001166937.1:p.Pro483=