Canonical Allele Identifier: CA6598997

Gene: AAAS

Linked Data

• ClinVar Variation Id: 1411554
• ClinVar RCV Id: RCV001918849 ; RCV002556307
• dbSNP Id: rs762854215
• ExAC: 12:53702516 T / G
• gnomAD v2: 12-53702516-T-G
• gnomAD v3: 12-53308732-T-G
• gnomAD v4: 12-53308732-T-G
• MyVariant Identifiers: chr12:g.53702516T>G (hg19) ; chr12:g.53308732T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308732T>G , CM000674.2:g.53308732T>G	GRCh38
NC_000012.11:g.53702516T>G , CM000674.1:g.53702516T>G	GRCh37
NC_000012.10:g.51988783T>G	NCBI36
NG_016775.1:g.17897A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1080A>C MANE Select	ENSP00000209873.4:p.Glu360Asp
ENST00000546562.6:n.2144A>C
ENST00000547238.6:n.1716A>C
ENST00000547520.6:n.1074A>C
ENST00000547757.2:c.129A>C	ENSP00000448020.2:p.Glu43Asp
ENST00000548880.2:n.1530A>C
ENST00000548931.6:c.600A>C	ENSP00000457518.1:p.Glu200Asp
ENST00000549450.6:n.1014A>C
ENST00000552161.6:n.2036A>C
ENST00000672797.1:n.1569A>C
ENST00000672900.1:n.2022A>C
ENST00000209873.8:c.1080A>C	ENSP00000209873.4:p.Glu360Asp
ENST00000394384.7:c.981A>C	ENSP00000377908.3:p.Glu327Asp
ENST00000548931.5:c.600A>C	ENSP00000457518.1:p.Glu200Asp
ENST00000550033.5:n.335A>C
ENST00000550286.5:c.708A>C	ENSP00000446885.1:p.Glu236Asp
ENST00000552876.5:n.1423A>C
NM_001173466.1:c.981A>C	NP_001166937.1:p.Glu327Asp
NM_015665.5:c.1080A>C	NP_056480.1:p.Glu360Asp
XM_006719617.2:c.1095A>C	XP_006719680.1:p.Glu365Asp
XM_011538777.1:c.1095A>C	XP_011537079.1:p.Glu365Asp
XM_011538778.1:c.1080A>C	XP_011537080.1:p.Glu360Asp
XM_011538779.1:c.996A>C	XP_011537081.1:p.Glu332Asp
XM_011538780.1:c.981A>C	XP_011537082.1:p.Glu327Asp
XM_011538781.1:c.429A>C	XP_011537083.1:p.Glu143Asp
XM_011538778.2:c.1080A>C	XP_011537080.1:p.Glu360Asp
XM_011538780.2:c.981A>C	XP_011537082.1:p.Glu327Asp
XR_001748875.2:n.1137A>C
NM_015665.6:c.1080A>C MANE Select	NP_056480.1:p.Glu360Asp
NM_001173466.2:c.981A>C	NP_001166937.1:p.Glu327Asp