Canonical Allele Identifier: CA385035143

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701376T>A (hg19) ; chr12:g.53307592T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307592T>A , CM000674.2:g.53307592T>A	GRCh38
NC_000012.11:g.53701376T>A , CM000674.1:g.53701376T>A	GRCh37
NC_000012.10:g.51987643T>A	NCBI36
NG_016775.1:g.19037A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1538A>T MANE Select	ENSP00000209873.4:p.His513Leu
ENST00000546562.6:n.2602A>T
ENST00000547238.6:n.2174A>T
ENST00000547520.6:n.1654A>T
ENST00000547757.2:c.*456A>T	ENSP00000448020.2:n.*456A>T
ENST00000548931.6:c.973A>T	ENSP00000457518.1:p.Met325Leu
ENST00000549450.6:n.1472A>T
ENST00000672797.1:n.2027A>T
ENST00000209873.8:c.1538A>T	ENSP00000209873.4:p.His513Leu
ENST00000394384.7:c.1439A>T	ENSP00000377908.3:p.His480Leu
ENST00000548931.5:c.973A>T	ENSP00000457518.1:p.Met325Leu
ENST00000550286.5:c.1166A>T	ENSP00000446885.1:p.His389Leu
ENST00000552876.5:n.1881A>T
NM_001173466.1:c.1439A>T	NP_001166937.1:p.His480Leu
NM_015665.5:c.1538A>T	NP_056480.1:p.His513Leu
XM_006719617.2:c.1553A>T	XP_006719680.1:p.His518Leu
XM_011538777.1:c.1595A>T	XP_011537079.1:p.His532Leu
XM_011538778.1:c.1580A>T	XP_011537080.1:p.His527Leu
XM_011538779.1:c.1496A>T	XP_011537081.1:p.His499Leu
XM_011538780.1:c.1481A>T	XP_011537082.1:p.His494Leu
XM_011538781.1:c.929A>T	XP_011537083.1:p.His310Leu
XM_011538778.2:c.1580A>T	XP_011537080.1:p.His527Leu
XM_011538780.2:c.1481A>T	XP_011537082.1:p.His494Leu
XR_001748875.2:n.1595A>T
NM_015665.6:c.1538A>T MANE Select	NP_056480.1:p.His513Leu
NM_001173466.2:c.1439A>T	NP_001166937.1:p.His480Leu