Canonical Allele Identifier: CA385041689

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702956G>A (hg19) ; chr12:g.53309172G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309172G>A , CM000674.2:g.53309172G>A	GRCh38
NC_000012.11:g.53702956G>A , CM000674.1:g.53702956G>A	GRCh37
NC_000012.10:g.51989223G>A	NCBI36
NG_016775.1:g.17457C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.920C>T MANE Select	ENSP00000209873.4:p.Pro307Leu
ENST00000546393.7:n.1765C>T
ENST00000546562.6:n.1984C>T
ENST00000547238.6:n.1556C>T
ENST00000547520.6:n.914C>T
ENST00000547757.2:c.-32C>T	ENSP00000448020.2:n.-32C>T
ENST00000548880.2:n.1370C>T
ENST00000548931.6:c.440C>T	ENSP00000457518.1:p.Pro147Leu
ENST00000549450.6:n.854C>T
ENST00000552161.6:n.1876C>T
ENST00000672797.1:n.1373C>T
ENST00000672900.1:n.1718C>T
ENST00000209873.8:c.920C>T	ENSP00000209873.4:p.Pro307Leu
ENST00000394384.7:c.821C>T	ENSP00000377908.3:p.Pro274Leu
ENST00000546393.6:n.817C>T
ENST00000546572.1:n.372C>T
ENST00000547520.5:n.624C>T
ENST00000547757.1:c.821C>T	ENSP00000448020.1:p.Pro274Leu
ENST00000547761.6:n.812C>T
ENST00000548931.5:c.440C>T	ENSP00000457518.1:p.Pro147Leu
ENST00000550033.5:n.175C>T
ENST00000550286.5:c.548C>T	ENSP00000446885.1:p.Pro183Leu
ENST00000552876.5:n.1263C>T
NM_001173466.1:c.821C>T	NP_001166937.1:p.Pro274Leu
NM_015665.5:c.920C>T	NP_056480.1:p.Pro307Leu
XM_006719617.2:c.935C>T	XP_006719680.1:p.Pro312Leu
XM_006719619.2:c.935C>T	XP_006719682.1:p.Pro312Leu
XM_011538777.1:c.935C>T	XP_011537079.1:p.Pro312Leu
XM_011538778.1:c.920C>T	XP_011537080.1:p.Pro307Leu
XM_011538779.1:c.836C>T	XP_011537081.1:p.Pro279Leu
XM_011538780.1:c.821C>T	XP_011537082.1:p.Pro274Leu
XM_011538781.1:c.269C>T	XP_011537083.1:p.Pro90Leu
XM_011538778.2:c.920C>T	XP_011537080.1:p.Pro307Leu
XM_011538780.2:c.821C>T	XP_011537082.1:p.Pro274Leu
XR_001748875.2:n.941C>T
NM_015665.6:c.920C>T MANE Select	NP_056480.1:p.Pro307Leu
NM_001173466.2:c.821C>T	NP_001166937.1:p.Pro274Leu