Canonical Allele Identifier: CA385041148

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702764T>G (hg19) ; chr12:g.53308980T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308980T>G , CM000674.2:g.53308980T>G	GRCh38
NC_000012.11:g.53702764T>G , CM000674.1:g.53702764T>G	GRCh37
NC_000012.10:g.51989031T>G	NCBI36
NG_016775.1:g.17649A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.976A>C MANE Select	ENSP00000209873.4:p.Thr326Pro
ENST00000546393.7:n.1821A>C
ENST00000546562.6:n.2040A>C
ENST00000547238.6:n.1612A>C
ENST00000547520.6:n.970A>C
ENST00000547757.2:c.25A>C	ENSP00000448020.2:p.Thr9Pro
ENST00000548880.2:n.1426A>C
ENST00000548931.6:c.496A>C	ENSP00000457518.1:p.Thr166Pro
ENST00000549450.6:n.910A>C
ENST00000552161.6:n.1932A>C
ENST00000672797.1:n.1429A>C
ENST00000672900.1:n.1774A>C
ENST00000209873.8:c.976A>C	ENSP00000209873.4:p.Thr326Pro
ENST00000394384.7:c.877A>C	ENSP00000377908.3:p.Thr293Pro
ENST00000546572.1:n.564A>C
ENST00000547520.5:n.680A>C
ENST00000548931.5:c.496A>C	ENSP00000457518.1:p.Thr166Pro
ENST00000550033.5:n.231A>C
ENST00000550286.5:c.604A>C	ENSP00000446885.1:p.Thr202Pro
ENST00000552876.5:n.1319A>C
NM_001173466.1:c.877A>C	NP_001166937.1:p.Thr293Pro
NM_015665.5:c.976A>C	NP_056480.1:p.Thr326Pro
XM_006719617.2:c.991A>C	XP_006719680.1:p.Thr331Pro
XM_006719619.2:c.991A>C	XP_006719682.1:p.Thr331Pro
XM_011538777.1:c.991A>C	XP_011537079.1:p.Thr331Pro
XM_011538778.1:c.976A>C	XP_011537080.1:p.Thr326Pro
XM_011538779.1:c.892A>C	XP_011537081.1:p.Thr298Pro
XM_011538780.1:c.877A>C	XP_011537082.1:p.Thr293Pro
XM_011538781.1:c.325A>C	XP_011537083.1:p.Thr109Pro
XM_011538778.2:c.976A>C	XP_011537080.1:p.Thr326Pro
XM_011538780.2:c.877A>C	XP_011537082.1:p.Thr293Pro
XR_001748875.2:n.997A>C
NM_015665.6:c.976A>C MANE Select	NP_056480.1:p.Thr326Pro
NM_001173466.2:c.877A>C	NP_001166937.1:p.Thr293Pro