Canonical Allele Identifier: CA385034387

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701274T>A (hg19) ; chr12:g.53307490T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307490T>A , CM000674.2:g.53307490T>A	GRCh38
NC_000012.11:g.53701274T>A , CM000674.1:g.53701274T>A	GRCh37
NC_000012.10:g.51987541T>A	NCBI36
NG_016775.1:g.19139A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1640A>T MANE Select	ENSP00000209873.4:p.Ter547Leu
ENST00000547757.2:c.*558A>T	ENSP00000448020.2:n.*558A>T
ENST00000548931.6:c.1075A>T	ENSP00000457518.1:p.Lys359Ter
ENST00000549450.6:n.1574A>T
ENST00000209873.8:c.1640A>T	ENSP00000209873.4:p.Ter547Leu
ENST00000394384.7:c.1541A>T	ENSP00000377908.3:p.Ter514Leu
ENST00000548931.5:c.1075A>T
ENST00000550286.5:c.1268A>T	ENSP00000446885.1:p.Ter423Leu
ENST00000552876.5:n.1983A>T
NM_001173466.1:c.1541A>T	NP_001166937.1:p.Ter514Leu
NM_015665.5:c.1640A>T	NP_056480.1:p.Ter547Leu
XM_006719617.2:c.1655A>T	XP_006719680.1:p.Ter552Leu
XM_011538777.1:c.1697A>T	XP_011537079.1:p.Ter566Leu
XM_011538778.1:c.1682A>T	XP_011537080.1:p.Ter561Leu
XM_011538779.1:c.1598A>T	XP_011537081.1:p.Ter533Leu
XM_011538780.1:c.1583A>T	XP_011537082.1:p.Ter528Leu
XM_011538781.1:c.1031A>T	XP_011537083.1:p.Ter344Leu
XM_011538778.2:c.1682A>T	XP_011537080.1:p.Ter561Leu
XM_011538780.2:c.1583A>T	XP_011537082.1:p.Ter528Leu
XR_001748875.2:n.1697A>T
NM_015665.6:c.1640A>T MANE Select	NP_056480.1:p.Ter547Leu
NM_001173466.2:c.1541A>T	NP_001166937.1:p.Ter514Leu