Canonical Allele Identifier: CA385034474

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701286T>A (hg19) ; chr12:g.53307502T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307502T>A , CM000674.2:g.53307502T>A	GRCh38
NC_000012.11:g.53701286T>A , CM000674.1:g.53701286T>A	GRCh37
NC_000012.10:g.51987553T>A	NCBI36
NG_016775.1:g.19127A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1628A>T MANE Select	ENSP00000209873.4:p.His543Leu
ENST00000547757.2:c.*546A>T	ENSP00000448020.2:n.*546A>T
ENST00000548931.6:c.1063A>T	ENSP00000457518.1:p.Ile355Phe
ENST00000549450.6:n.1562A>T
ENST00000209873.8:c.1628A>T	ENSP00000209873.4:p.His543Leu
ENST00000394384.7:c.1529A>T	ENSP00000377908.3:p.His510Leu
ENST00000548931.5:c.1063A>T	ENSP00000457518.1:p.Ile355Phe
ENST00000550286.5:c.1256A>T	ENSP00000446885.1:p.His419Leu
ENST00000552876.5:n.1971A>T
NM_001173466.1:c.1529A>T	NP_001166937.1:p.His510Leu
NM_015665.5:c.1628A>T	NP_056480.1:p.His543Leu
XM_006719617.2:c.1643A>T	XP_006719680.1:p.His548Leu
XM_011538777.1:c.1685A>T	XP_011537079.1:p.His562Leu
XM_011538778.1:c.1670A>T	XP_011537080.1:p.His557Leu
XM_011538779.1:c.1586A>T	XP_011537081.1:p.His529Leu
XM_011538780.1:c.1571A>T	XP_011537082.1:p.His524Leu
XM_011538781.1:c.1019A>T	XP_011537083.1:p.His340Leu
XM_011538778.2:c.1670A>T	XP_011537080.1:p.His557Leu
XM_011538780.2:c.1571A>T	XP_011537082.1:p.His524Leu
XR_001748875.2:n.1685A>T
NM_015665.6:c.1628A>T MANE Select	NP_056480.1:p.His543Leu
NM_001173466.2:c.1529A>T	NP_001166937.1:p.His510Leu