Canonical Allele Identifier: CA385035077

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701367G>C (hg19) ; chr12:g.53307583G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307583G>C , CM000674.2:g.53307583G>C	GRCh38
NC_000012.11:g.53701367G>C , CM000674.1:g.53701367G>C	GRCh37
NC_000012.10:g.51987634G>C	NCBI36
NG_016775.1:g.19046C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1547C>G MANE Select	ENSP00000209873.4:p.Pro516Arg
ENST00000546562.6:n.2611C>G
ENST00000547238.6:n.2183C>G
ENST00000547520.6:n.1663C>G
ENST00000547757.2:c.*465C>G	ENSP00000448020.2:n.*465C>G
ENST00000548931.6:c.982C>G	ENSP00000457518.1:p.Pro328Ala
ENST00000549450.6:n.1481C>G
ENST00000672797.1:n.2036C>G
ENST00000209873.8:c.1547C>G	ENSP00000209873.4:p.Pro516Arg
ENST00000394384.7:c.1448C>G	ENSP00000377908.3:p.Pro483Arg
ENST00000548931.5:c.982C>G	ENSP00000457518.1:p.Pro328Ala
ENST00000550286.5:c.1175C>G	ENSP00000446885.1:p.Pro392Arg
ENST00000552876.5:n.1890C>G
NM_001173466.1:c.1448C>G	NP_001166937.1:p.Pro483Arg
NM_015665.5:c.1547C>G	NP_056480.1:p.Pro516Arg
XM_006719617.2:c.1562C>G	XP_006719680.1:p.Pro521Arg
XM_011538777.1:c.1604C>G	XP_011537079.1:p.Pro535Arg
XM_011538778.1:c.1589C>G	XP_011537080.1:p.Pro530Arg
XM_011538779.1:c.1505C>G	XP_011537081.1:p.Pro502Arg
XM_011538780.1:c.1490C>G	XP_011537082.1:p.Pro497Arg
XM_011538781.1:c.938C>G	XP_011537083.1:p.Pro313Arg
XM_011538778.2:c.1589C>G	XP_011537080.1:p.Pro530Arg
XM_011538780.2:c.1490C>G	XP_011537082.1:p.Pro497Arg
XR_001748875.2:n.1604C>G
NM_015665.6:c.1547C>G MANE Select	NP_056480.1:p.Pro516Arg
NM_001173466.2:c.1448C>G	NP_001166937.1:p.Pro483Arg