Canonical Allele Identifier: CA385040562

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702560T>G (hg19) ; chr12:g.53308776T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308776T>G , CM000674.2:g.53308776T>G	GRCh38
NC_000012.11:g.53702560T>G , CM000674.1:g.53702560T>G	GRCh37
NC_000012.10:g.51988827T>G	NCBI36
NG_016775.1:g.17853A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1036A>C MANE Select	ENSP00000209873.4:p.Thr346Pro
ENST00000546393.7:n.1881A>C
ENST00000546562.6:n.2100A>C
ENST00000547238.6:n.1672A>C
ENST00000547520.6:n.1030A>C
ENST00000547757.2:c.85A>C	ENSP00000448020.2:p.Thr29Pro
ENST00000548880.2:n.1486A>C
ENST00000548931.6:c.556A>C	ENSP00000457518.1:p.Thr186Pro
ENST00000549450.6:n.970A>C
ENST00000552161.6:n.1992A>C
ENST00000672797.1:n.1525A>C
ENST00000672900.1:n.1978A>C
ENST00000209873.8:c.1036A>C	ENSP00000209873.4:p.Thr346Pro
ENST00000394384.7:c.937A>C	ENSP00000377908.3:p.Thr313Pro
ENST00000547520.5:n.740A>C
ENST00000548931.5:c.556A>C	ENSP00000457518.1:p.Thr186Pro
ENST00000550033.5:n.291A>C
ENST00000550286.5:c.664A>C	ENSP00000446885.1:p.Thr222Pro
ENST00000552876.5:n.1379A>C
NM_001173466.1:c.937A>C	NP_001166937.1:p.Thr313Pro
NM_015665.5:c.1036A>C	NP_056480.1:p.Thr346Pro
XM_006719617.2:c.1051A>C	XP_006719680.1:p.Thr351Pro
XM_006719619.2:c.*46A>C	XP_006719682.1:n.*46A>C
XM_011538777.1:c.1051A>C	XP_011537079.1:p.Thr351Pro
XM_011538778.1:c.1036A>C	XP_011537080.1:p.Thr346Pro
XM_011538779.1:c.952A>C	XP_011537081.1:p.Thr318Pro
XM_011538780.1:c.937A>C	XP_011537082.1:p.Thr313Pro
XM_011538781.1:c.385A>C	XP_011537083.1:p.Thr129Pro
XM_011538778.2:c.1036A>C	XP_011537080.1:p.Thr346Pro
XM_011538780.2:c.937A>C	XP_011537082.1:p.Thr313Pro
XR_001748875.2:n.1093A>C
NM_015665.6:c.1036A>C MANE Select	NP_056480.1:p.Thr346Pro
NM_001173466.2:c.937A>C	NP_001166937.1:p.Thr313Pro