Canonical Allele Identifier: CA385034697

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701319G>C (hg19) ; chr12:g.53307535G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307535G>C , CM000674.2:g.53307535G>C	GRCh38
NC_000012.11:g.53701319G>C , CM000674.1:g.53701319G>C	GRCh37
NC_000012.10:g.51987586G>C	NCBI36
NG_016775.1:g.19094C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1595C>G MANE Select	ENSP00000209873.4:p.Pro532Arg
ENST00000546562.6:n.2659C>G
ENST00000547238.6:n.2231C>G
ENST00000547757.2:c.*513C>G	ENSP00000448020.2:n.*513C>G
ENST00000548931.6:c.1030C>G	ENSP00000457518.1:p.Gln344Glu
ENST00000549450.6:n.1529C>G
ENST00000672797.1:n.2084C>G
ENST00000209873.8:c.1595C>G	ENSP00000209873.4:p.Pro532Arg
ENST00000394384.7:c.1496C>G	ENSP00000377908.3:p.Pro499Arg
ENST00000548931.5:c.1030C>G	ENSP00000457518.1:p.Gln344Glu
ENST00000550286.5:c.1223C>G	ENSP00000446885.1:p.Pro408Arg
ENST00000552876.5:n.1938C>G
NM_001173466.1:c.1496C>G	NP_001166937.1:p.Pro499Arg
NM_015665.5:c.1595C>G	NP_056480.1:p.Pro532Arg
XM_006719617.2:c.1610C>G	XP_006719680.1:p.Pro537Arg
XM_011538777.1:c.1652C>G	XP_011537079.1:p.Pro551Arg
XM_011538778.1:c.1637C>G	XP_011537080.1:p.Pro546Arg
XM_011538779.1:c.1553C>G	XP_011537081.1:p.Pro518Arg
XM_011538780.1:c.1538C>G	XP_011537082.1:p.Pro513Arg
XM_011538781.1:c.986C>G	XP_011537083.1:p.Pro329Arg
XM_011538778.2:c.1637C>G	XP_011537080.1:p.Pro546Arg
XM_011538780.2:c.1538C>G	XP_011537082.1:p.Pro513Arg
XR_001748875.2:n.1652C>G
NM_015665.6:c.1595C>G MANE Select	NP_056480.1:p.Pro532Arg
NM_001173466.2:c.1496C>G	NP_001166937.1:p.Pro499Arg