Canonical Allele Identifier: CA385041464

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702798C>T (hg19) ; chr12:g.53309014C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309014C>T , CM000674.2:g.53309014C>T	GRCh38
NC_000012.11:g.53702798C>T , CM000674.1:g.53702798C>T	GRCh37
NC_000012.10:g.51989065C>T	NCBI36
NG_016775.1:g.17615G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.942G>A MANE Select	ENSP00000209873.4:p.Trp314Ter
ENST00000546393.7:n.1787G>A
ENST00000546562.6:n.2006G>A
ENST00000547238.6:n.1578G>A
ENST00000547520.6:n.936G>A
ENST00000547757.2:c.-10G>A	ENSP00000448020.2:n.-10G>A
ENST00000548880.2:n.1392G>A
ENST00000548931.6:c.462G>A	ENSP00000457518.1:p.Trp154Ter
ENST00000549450.6:n.876G>A
ENST00000552161.6:n.1898G>A
ENST00000672797.1:n.1395G>A
ENST00000672900.1:n.1740G>A
ENST00000209873.8:c.942G>A	ENSP00000209873.4:p.Trp314Ter
ENST00000394384.7:c.843G>A	ENSP00000377908.3:p.Trp281Ter
ENST00000546572.1:n.530G>A
ENST00000547520.5:n.646G>A
ENST00000548931.5:c.462G>A	ENSP00000457518.1:p.Trp154Ter
ENST00000550033.5:n.197G>A
ENST00000550286.5:c.570G>A	ENSP00000446885.1:p.Trp190Ter
ENST00000552876.5:n.1285G>A
NM_001173466.1:c.843G>A	NP_001166937.1:p.Trp281Ter
NM_015665.5:c.942G>A	NP_056480.1:p.Trp314Ter
XM_006719617.2:c.957G>A	XP_006719680.1:p.Trp319Ter
XM_006719619.2:c.957G>A	XP_006719682.1:p.Trp319Ter
XM_011538777.1:c.957G>A	XP_011537079.1:p.Trp319Ter
XM_011538778.1:c.942G>A	XP_011537080.1:p.Trp314Ter
XM_011538779.1:c.858G>A	XP_011537081.1:p.Trp286Ter
XM_011538780.1:c.843G>A	XP_011537082.1:p.Trp281Ter
XM_011538781.1:c.291G>A	XP_011537083.1:p.Trp97Ter
XM_011538778.2:c.942G>A	XP_011537080.1:p.Trp314Ter
XM_011538780.2:c.843G>A	XP_011537082.1:p.Trp281Ter
XR_001748875.2:n.963G>A
NM_015665.6:c.942G>A MANE Select	NP_056480.1:p.Trp314Ter
NM_001173466.2:c.843G>A	NP_001166937.1:p.Trp281Ter