Canonical Allele Identifier: CA385040428

Gene: AAAS

Linked Data

• COSMIC: COSM135594
• MyVariant Identifiers: chr12:g.53702544G>A (hg19) ; chr12:g.53308760G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308760G>A , CM000674.2:g.53308760G>A	GRCh38
NC_000012.11:g.53702544G>A , CM000674.1:g.53702544G>A	GRCh37
NC_000012.10:g.51988811G>A	NCBI36
NG_016775.1:g.17869C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1052C>T MANE Select	ENSP00000209873.4:p.Pro351Leu
ENST00000546562.6:n.2116C>T
ENST00000547238.6:n.1688C>T
ENST00000547520.6:n.1046C>T
ENST00000547757.2:c.101C>T	ENSP00000448020.2:p.Pro34Leu
ENST00000548880.2:n.1502C>T
ENST00000548931.6:c.572C>T	ENSP00000457518.1:p.Pro191Leu
ENST00000549450.6:n.986C>T
ENST00000552161.6:n.2008C>T
ENST00000672797.1:n.1541C>T
ENST00000672900.1:n.1994C>T
ENST00000209873.8:c.1052C>T	ENSP00000209873.4:p.Pro351Leu
ENST00000394384.7:c.953C>T	ENSP00000377908.3:p.Pro318Leu
ENST00000547520.5:n.756C>T
ENST00000548931.5:c.572C>T	ENSP00000457518.1:p.Pro191Leu
ENST00000550033.5:n.307C>T
ENST00000550286.5:c.680C>T	ENSP00000446885.1:p.Pro227Leu
ENST00000552876.5:n.1395C>T
NM_001173466.1:c.953C>T	NP_001166937.1:p.Pro318Leu
NM_015665.5:c.1052C>T	NP_056480.1:p.Pro351Leu
XM_006719617.2:c.1067C>T	XP_006719680.1:p.Pro356Leu
XM_006719619.2:c.*62C>T	XP_006719682.1:n.*62C>T
XM_011538777.1:c.1067C>T	XP_011537079.1:p.Pro356Leu
XM_011538778.1:c.1052C>T	XP_011537080.1:p.Pro351Leu
XM_011538779.1:c.968C>T	XP_011537081.1:p.Pro323Leu
XM_011538780.1:c.953C>T	XP_011537082.1:p.Pro318Leu
XM_011538781.1:c.401C>T	XP_011537083.1:p.Pro134Leu
XM_011538778.2:c.1052C>T	XP_011537080.1:p.Pro351Leu
XM_011538780.2:c.953C>T	XP_011537082.1:p.Pro318Leu
XR_001748875.2:n.1109C>T
NM_015665.6:c.1052C>T MANE Select	NP_056480.1:p.Pro351Leu
NM_001173466.2:c.953C>T	NP_001166937.1:p.Pro318Leu