Canonical Allele Identifier: CA117228

Gene: AAAS

Linked Data

• ClinVar Variation Id: 5045
• ClinVar RCV Id: RCV000005348 ; RCV000311283 ; RCV000415076 ; RCV000624696
• dbSNP Id: rs121918550
• ExAC: 12:53703408 A / G
• gnomAD v2: 12-53703408-A-G
• gnomAD v3: 12-53309624-A-G
• gnomAD v4: 12-53309624-A-G
• MyVariant Identifiers: chr12:g.53703408A>G (hg19) ; chr12:g.53309624A>G (hg38)
• PubMed: PMID:1537368 ; PMID:6243664 ; PMID:11159947 ; PMID:12752575 ; PMID:16098009 ; PMID:18628786 ; PMID:26622478

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309624A>G , CM000674.2:g.53309624A>G	GRCh38
NC_000012.11:g.53703408A>G , CM000674.1:g.53703408A>G	GRCh37
NC_000012.10:g.51989675A>G	NCBI36
NG_016775.1:g.17005T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.787T>C MANE Select	ENSP00000209873.4:p.Ser263Pro
ENST00000546393.7:n.1632T>C
ENST00000546562.6:n.1851T>C
ENST00000547238.6:n.1423T>C
ENST00000547520.6:n.781T>C
ENST00000547757.2:c.-165T>C	ENSP00000448020.2:n.-165T>C
ENST00000548880.2:n.1237T>C
ENST00000548931.6:c.307T>C	ENSP00000457518.1:p.Ser103Pro
ENST00000549450.6:n.721T>C
ENST00000552161.6:n.1743T>C
ENST00000672797.1:n.1240T>C
ENST00000672900.1:n.1585T>C
ENST00000209873.8:c.787T>C	ENSP00000209873.4:p.Ser263Pro
ENST00000394384.7:c.688T>C	ENSP00000377908.3:p.Ser230Pro
ENST00000546393.6:n.684T>C
ENST00000546572.1:n.239T>C
ENST00000547520.5:n.491T>C
ENST00000547757.1:c.688T>C	ENSP00000448020.1:p.Ser230Pro
ENST00000547761.6:n.679T>C
ENST00000548931.5:c.307T>C	ENSP00000457518.1:p.Ser103Pro
ENST00000549983.5:n.810T>C
ENST00000550033.5:n.42T>C
ENST00000550286.5:c.415T>C	ENSP00000446885.1:p.Ser139Pro
ENST00000552876.5:n.1130T>C
NM_001173466.1:c.688T>C	NP_001166937.1:p.Ser230Pro
NM_015665.5:c.787T>C	NP_056480.1:p.Ser263Pro
XM_006719617.2:c.802T>C	XP_006719680.1:p.Ser268Pro
XM_006719619.2:c.802T>C	XP_006719682.1:p.Ser268Pro
XM_011538777.1:c.802T>C	XP_011537079.1:p.Ser268Pro
XM_011538778.1:c.787T>C	XP_011537080.1:p.Ser263Pro
XM_011538779.1:c.703T>C	XP_011537081.1:p.Ser235Pro
XM_011538780.1:c.688T>C	XP_011537082.1:p.Ser230Pro
XM_011538781.1:c.136T>C	XP_011537083.1:p.Ser46Pro
XM_011538778.2:c.787T>C	XP_011537080.1:p.Ser263Pro
XM_011538780.2:c.688T>C	XP_011537082.1:p.Ser230Pro
XR_001748875.2:n.808T>C
NM_015665.6:c.787T>C MANE Select	NP_056480.1:p.Ser263Pro
NM_001173466.2:c.688T>C	NP_001166937.1:p.Ser230Pro