Canonical Allele Identifier: CA385040543

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702557C>A (hg19) ; chr12:g.53308773C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308773C>A , CM000674.2:g.53308773C>A	GRCh38
NC_000012.11:g.53702557C>A , CM000674.1:g.53702557C>A	GRCh37
NC_000012.10:g.51988824C>A	NCBI36
NG_016775.1:g.17856G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1039G>T MANE Select	ENSP00000209873.4:p.Val347Leu
ENST00000546562.6:n.2103G>T
ENST00000547238.6:n.1675G>T
ENST00000547520.6:n.1033G>T
ENST00000547757.2:c.88G>T	ENSP00000448020.2:p.Val30Leu
ENST00000548880.2:n.1489G>T
ENST00000548931.6:c.559G>T	ENSP00000457518.1:p.Val187Leu
ENST00000549450.6:n.973G>T
ENST00000552161.6:n.1995G>T
ENST00000672797.1:n.1528G>T
ENST00000672900.1:n.1981G>T
ENST00000209873.8:c.1039G>T	ENSP00000209873.4:p.Val347Leu
ENST00000394384.7:c.940G>T	ENSP00000377908.3:p.Val314Leu
ENST00000547520.5:n.743G>T
ENST00000548931.5:c.559G>T	ENSP00000457518.1:p.Val187Leu
ENST00000550033.5:n.294G>T
ENST00000550286.5:c.667G>T	ENSP00000446885.1:p.Val223Leu
ENST00000552876.5:n.1382G>T
NM_001173466.1:c.940G>T	NP_001166937.1:p.Val314Leu
NM_015665.5:c.1039G>T	NP_056480.1:p.Val347Leu
XM_006719617.2:c.1054G>T	XP_006719680.1:p.Val352Leu
XM_006719619.2:c.*49G>T	XP_006719682.1:n.*49G>T
XM_011538777.1:c.1054G>T	XP_011537079.1:p.Val352Leu
XM_011538778.1:c.1039G>T	XP_011537080.1:p.Val347Leu
XM_011538779.1:c.955G>T	XP_011537081.1:p.Val319Leu
XM_011538780.1:c.940G>T	XP_011537082.1:p.Val314Leu
XM_011538781.1:c.388G>T	XP_011537083.1:p.Val130Leu
XM_011538778.2:c.1039G>T	XP_011537080.1:p.Val347Leu
XM_011538780.2:c.940G>T	XP_011537082.1:p.Val314Leu
XR_001748875.2:n.1096G>T
NM_015665.6:c.1039G>T MANE Select	NP_056480.1:p.Val347Leu
NM_001173466.2:c.940G>T	NP_001166937.1:p.Val314Leu