Canonical Allele Identifier: CA385035268

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701393C>A (hg19) ; chr12:g.53307609C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307609C>A , CM000674.2:g.53307609C>A	GRCh38
NC_000012.11:g.53701393C>A , CM000674.1:g.53701393C>A	GRCh37
NC_000012.10:g.51987660C>A	NCBI36
NG_016775.1:g.19020G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1521G>T MANE Select	ENSP00000209873.4:p.Gly507=
ENST00000546562.6:n.2585G>T
ENST00000547238.6:n.2157G>T
ENST00000547520.6:n.1637G>T
ENST00000547757.2:c.*439G>T	ENSP00000448020.2:n.*439G>T
ENST00000548931.6:c.956G>T	ENSP00000457518.1:p.Gly319Val
ENST00000549450.6:n.1455G>T
ENST00000672797.1:n.2010G>T
ENST00000209873.8:c.1521G>T	ENSP00000209873.4:p.Gly507=
ENST00000394384.7:c.1422G>T	ENSP00000377908.3:p.Gly474=
ENST00000548931.5:c.956G>T	ENSP00000457518.1:p.Gly319Val
ENST00000550286.5:c.1149G>T	ENSP00000446885.1:p.Gly383=
ENST00000552876.5:n.1864G>T
NM_001173466.1:c.1422G>T	NP_001166937.1:p.Gly474=
NM_015665.5:c.1521G>T	NP_056480.1:p.Gly507=
XM_006719617.2:c.1536G>T	XP_006719680.1:p.Gly512=
XM_011538777.1:c.1578G>T	XP_011537079.1:p.Gly526=
XM_011538778.1:c.1563G>T	XP_011537080.1:p.Gly521=
XM_011538779.1:c.1479G>T	XP_011537081.1:p.Gly493=
XM_011538780.1:c.1464G>T	XP_011537082.1:p.Gly488=
XM_011538781.1:c.912G>T	XP_011537083.1:p.Gly304=
XM_011538778.2:c.1563G>T	XP_011537080.1:p.Gly521=
XM_011538780.2:c.1464G>T	XP_011537082.1:p.Gly488=
XR_001748875.2:n.1578G>T
NM_015665.6:c.1521G>T MANE Select	NP_056480.1:p.Gly507=
NM_001173466.2:c.1422G>T	NP_001166937.1:p.Gly474=