Canonical Allele Identifier: CA385041763

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702963T>G (hg19) ; chr12:g.53309179T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309179T>G , CM000674.2:g.53309179T>G	GRCh38
NC_000012.11:g.53702963T>G , CM000674.1:g.53702963T>G	GRCh37
NC_000012.10:g.51989230T>G	NCBI36
NG_016775.1:g.17450A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.913A>C MANE Select	ENSP00000209873.4:p.Thr305Pro
ENST00000546393.7:n.1758A>C
ENST00000546562.6:n.1977A>C
ENST00000547238.6:n.1549A>C
ENST00000547520.6:n.907A>C
ENST00000547757.2:c.-39A>C	ENSP00000448020.2:n.-39A>C
ENST00000548880.2:n.1363A>C
ENST00000548931.6:c.433A>C	ENSP00000457518.1:p.Thr145Pro
ENST00000549450.6:n.847A>C
ENST00000552161.6:n.1869A>C
ENST00000672797.1:n.1366A>C
ENST00000672900.1:n.1711A>C
ENST00000209873.8:c.913A>C	ENSP00000209873.4:p.Thr305Pro
ENST00000394384.7:c.814A>C	ENSP00000377908.3:p.Thr272Pro
ENST00000546393.6:n.810A>C
ENST00000546572.1:n.365A>C
ENST00000547520.5:n.617A>C
ENST00000547757.1:c.814A>C	ENSP00000448020.1:p.Thr272Pro
ENST00000547761.6:n.805A>C
ENST00000548931.5:c.433A>C	ENSP00000457518.1:p.Thr145Pro
ENST00000550033.5:n.168A>C
ENST00000550286.5:c.541A>C	ENSP00000446885.1:p.Thr181Pro
ENST00000552876.5:n.1256A>C
NM_001173466.1:c.814A>C	NP_001166937.1:p.Thr272Pro
NM_015665.5:c.913A>C	NP_056480.1:p.Thr305Pro
XM_006719617.2:c.928A>C	XP_006719680.1:p.Thr310Pro
XM_006719619.2:c.928A>C	XP_006719682.1:p.Thr310Pro
XM_011538777.1:c.928A>C	XP_011537079.1:p.Thr310Pro
XM_011538778.1:c.913A>C	XP_011537080.1:p.Thr305Pro
XM_011538779.1:c.829A>C	XP_011537081.1:p.Thr277Pro
XM_011538780.1:c.814A>C	XP_011537082.1:p.Thr272Pro
XM_011538781.1:c.262A>C	XP_011537083.1:p.Thr88Pro
XM_011538778.2:c.913A>C	XP_011537080.1:p.Thr305Pro
XM_011538780.2:c.814A>C	XP_011537082.1:p.Thr272Pro
XR_001748875.2:n.934A>C
NM_015665.6:c.913A>C MANE Select	NP_056480.1:p.Thr305Pro
NM_001173466.2:c.814A>C	NP_001166937.1:p.Thr272Pro