Canonical Allele Identifier: CA385035018

Gene: AAAS

Linked Data

• ClinVar Variation Id: 2104826
• ClinVar RCV Id: RCV003031578
• MyVariant Identifiers: chr12:g.53701359T>G (hg19) ; chr12:g.53307575T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307575T>G , CM000674.2:g.53307575T>G	GRCh38
NC_000012.11:g.53701359T>G , CM000674.1:g.53701359T>G	GRCh37
NC_000012.10:g.51987626T>G	NCBI36
NG_016775.1:g.19054A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1555A>C MANE Select	ENSP00000209873.4:p.Thr519Pro
ENST00000546562.6:n.2619A>C
ENST00000547238.6:n.2191A>C
ENST00000547520.6:n.1671A>C
ENST00000547757.2:c.*473A>C	ENSP00000448020.2:n.*473A>C
ENST00000548931.6:c.990A>C	ENSP00000457518.1:p.Leu330Phe
ENST00000549450.6:n.1489A>C
ENST00000672797.1:n.2044A>C
ENST00000209873.8:c.1555A>C	ENSP00000209873.4:p.Thr519Pro
ENST00000394384.7:c.1456A>C	ENSP00000377908.3:p.Thr486Pro
ENST00000548931.5:c.990A>C	ENSP00000457518.1:p.Leu330Phe
ENST00000550286.5:c.1183A>C	ENSP00000446885.1:p.Thr395Pro
ENST00000552876.5:n.1898A>C
NM_001173466.1:c.1456A>C	NP_001166937.1:p.Thr486Pro
NM_015665.5:c.1555A>C	NP_056480.1:p.Thr519Pro
XM_006719617.2:c.1570A>C	XP_006719680.1:p.Thr524Pro
XM_011538777.1:c.1612A>C	XP_011537079.1:p.Thr538Pro
XM_011538778.1:c.1597A>C	XP_011537080.1:p.Thr533Pro
XM_011538779.1:c.1513A>C	XP_011537081.1:p.Thr505Pro
XM_011538780.1:c.1498A>C	XP_011537082.1:p.Thr500Pro
XM_011538781.1:c.946A>C	XP_011537083.1:p.Thr316Pro
XM_011538778.2:c.1597A>C	XP_011537080.1:p.Thr533Pro
XM_011538780.2:c.1498A>C	XP_011537082.1:p.Thr500Pro
XR_001748875.2:n.1612A>C
NM_015665.6:c.1555A>C MANE Select	NP_056480.1:p.Thr519Pro
NM_001173466.2:c.1456A>C	NP_001166937.1:p.Thr486Pro