Canonical Allele Identifier: CA385041471

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702799C>A (hg19) ; chr12:g.53309015C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309015C>A , CM000674.2:g.53309015C>A	GRCh38
NC_000012.11:g.53702799C>A , CM000674.1:g.53702799C>A	GRCh37
NC_000012.10:g.51989066C>A	NCBI36
NG_016775.1:g.17614G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.941G>T MANE Select	ENSP00000209873.4:p.Trp314Leu
ENST00000546393.7:n.1786G>T
ENST00000546562.6:n.2005G>T
ENST00000547238.6:n.1577G>T
ENST00000547520.6:n.935G>T
ENST00000547757.2:c.-11G>T	ENSP00000448020.2:n.-11G>T
ENST00000548880.2:n.1391G>T
ENST00000548931.6:c.461G>T	ENSP00000457518.1:p.Trp154Leu
ENST00000549450.6:n.875G>T
ENST00000552161.6:n.1897G>T
ENST00000672797.1:n.1394G>T
ENST00000672900.1:n.1739G>T
ENST00000209873.8:c.941G>T	ENSP00000209873.4:p.Trp314Leu
ENST00000394384.7:c.842G>T	ENSP00000377908.3:p.Trp281Leu
ENST00000546572.1:n.529G>T
ENST00000547520.5:n.645G>T
ENST00000548931.5:c.461G>T	ENSP00000457518.1:p.Trp154Leu
ENST00000550033.5:n.196G>T
ENST00000550286.5:c.569G>T	ENSP00000446885.1:p.Trp190Leu
ENST00000552876.5:n.1284G>T
NM_001173466.1:c.842G>T	NP_001166937.1:p.Trp281Leu
NM_015665.5:c.941G>T	NP_056480.1:p.Trp314Leu
XM_006719617.2:c.956G>T	XP_006719680.1:p.Trp319Leu
XM_006719619.2:c.956G>T	XP_006719682.1:p.Trp319Leu
XM_011538777.1:c.956G>T	XP_011537079.1:p.Trp319Leu
XM_011538778.1:c.941G>T	XP_011537080.1:p.Trp314Leu
XM_011538779.1:c.857G>T	XP_011537081.1:p.Trp286Leu
XM_011538780.1:c.842G>T	XP_011537082.1:p.Trp281Leu
XM_011538781.1:c.290G>T	XP_011537083.1:p.Trp97Leu
XM_011538778.2:c.941G>T	XP_011537080.1:p.Trp314Leu
XM_011538780.2:c.842G>T	XP_011537082.1:p.Trp281Leu
XR_001748875.2:n.962G>T
NM_015665.6:c.941G>T MANE Select	NP_056480.1:p.Trp314Leu
NM_001173466.2:c.842G>T	NP_001166937.1:p.Trp281Leu