Canonical Allele Identifier: CA6598921

Gene: AAAS

Linked Data

• ClinVar Variation Id: 309727
• ClinVar RCV Id: RCV000366879 ; RCV000888966
• dbSNP Id: rs200834285
• ExAC: 12:53702058 C / T
• gnomAD v2: 12-53702058-C-T
• gnomAD v3: 12-53308274-C-T
• gnomAD v4: 12-53308274-C-T
• MyVariant Identifiers: chr12:g.53702058C>T (hg19) ; chr12:g.53308274C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308274C>T , CM000674.2:g.53308274C>T	GRCh38
NC_000012.11:g.53702058C>T , CM000674.1:g.53702058C>T	GRCh37
NC_000012.10:g.51988325C>T	NCBI36
NG_016775.1:g.18355G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1249+8G>A MANE Select	ENSP00000209873.4:n.1249+8G>A
ENST00000546562.6:n.2313+8G>A
ENST00000547238.6:n.1885+8G>A
ENST00000547520.6:n.1243+8G>A
ENST00000547757.2:c.298+8G>A	ENSP00000448020.2:n.298+8G>A
ENST00000548880.2:n.1699+8G>A
ENST00000548931.6:c.769+8G>A	ENSP00000457518.1:n.769+8G>A
ENST00000549450.6:n.1183+8G>A
ENST00000552161.6:n.2205+8G>A
ENST00000672797.1:n.1738+8G>A
ENST00000672900.1:n.2199G>A
ENST00000209873.8:c.1249+8G>A	ENSP00000209873.4:n.1249+8G>A
ENST00000394384.7:c.1150+8G>A	ENSP00000377908.3:n.1150+8G>A
ENST00000548931.5:c.769+8G>A	ENSP00000457518.1:n.769+8G>A
ENST00000550033.5:n.504+8G>A
ENST00000550286.5:c.877+8G>A	ENSP00000446885.1:n.877+8G>A
ENST00000552876.5:n.1592+8G>A
NM_001173466.1:c.1150+8G>A	NP_001166937.1:n.1150+8G>A
NM_015665.5:c.1249+8G>A	NP_056480.1:n.1249+8G>A
XM_006719617.2:c.1264+8G>A	XP_006719680.1:n.1264+8G>A
XM_011538777.1:c.1264+8G>A	XP_011537079.1:n.1264+8G>A
XM_011538778.1:c.1249+8G>A	XP_011537080.1:n.1249+8G>A
XM_011538779.1:c.1165+8G>A	XP_011537081.1:n.1165+8G>A
XM_011538780.1:c.1150+8G>A	XP_011537082.1:n.1150+8G>A
XM_011538781.1:c.598+8G>A	XP_011537083.1:n.598+8G>A
XM_011538778.2:c.1249+8G>A	XP_011537080.1:n.1249+8G>A
XM_011538780.2:c.1150+8G>A	XP_011537082.1:n.1150+8G>A
XR_001748875.2:n.1306+8G>A
NM_015665.6:c.1249+8G>A MANE Select	NP_056480.1:n.1249+8G>A
NM_001173466.2:c.1150+8G>A	NP_001166937.1:n.1150+8G>A