Canonical Allele Identifier: CA6599029

Gene: AAAS

Linked Data

• ClinVar Variation Id: 309729
• ClinVar RCV Id: RCV001805011 ; RCV000317951
• dbSNP Id: rs200312077
• ExAC: 12:53702732 G / A
• gnomAD v2: 12-53702732-G-A
• gnomAD v3: 12-53308948-G-A
• gnomAD v4: 12-53308948-G-A
• MyVariant Identifiers: chr12:g.53702732G>A (hg19) ; chr12:g.53308948G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308948G>A , CM000674.2:g.53308948G>A	GRCh38
NC_000012.11:g.53702732G>A , CM000674.1:g.53702732G>A	GRCh37
NC_000012.10:g.51988999G>A	NCBI36
NG_016775.1:g.17681C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.996+12C>T MANE Select	ENSP00000209873.4:n.996+12C>T
ENST00000546393.7:n.1841+12C>T
ENST00000546562.6:n.2060+12C>T
ENST00000547238.6:n.1632+12C>T
ENST00000547520.6:n.990+12C>T
ENST00000547757.2:c.45+12C>T	ENSP00000448020.2:n.45+12C>T
ENST00000548880.2:n.1446+12C>T
ENST00000548931.6:c.516+12C>T	ENSP00000457518.1:n.516+12C>T
ENST00000549450.6:n.930+12C>T
ENST00000552161.6:n.1952+12C>T
ENST00000672797.1:n.1449+12C>T
ENST00000672900.1:n.1806C>T
ENST00000209873.8:c.996+12C>T	ENSP00000209873.4:n.996+12C>T
ENST00000394384.7:c.897+12C>T	ENSP00000377908.3:n.897+12C>T
ENST00000547520.5:n.700+12C>T
ENST00000548931.5:c.516+12C>T	ENSP00000457518.1:n.516+12C>T
ENST00000550033.5:n.251+12C>T
ENST00000550286.5:c.624+12C>T	ENSP00000446885.1:n.624+12C>T
ENST00000552876.5:n.1339+12C>T
NM_001173466.1:c.897+12C>T	NP_001166937.1:n.897+12C>T
NM_015665.5:c.996+12C>T	NP_056480.1:n.996+12C>T
XM_006719617.2:c.1011+12C>T	XP_006719680.1:n.1011+12C>T
XM_006719619.2:c.1011+12C>T	XP_006719682.1:n.1011+12C>T
XM_011538777.1:c.1011+12C>T	XP_011537079.1:n.1011+12C>T
XM_011538778.1:c.996+12C>T	XP_011537080.1:n.996+12C>T
XM_011538779.1:c.912+12C>T	XP_011537081.1:n.912+12C>T
XM_011538780.1:c.897+12C>T	XP_011537082.1:n.897+12C>T
XM_011538781.1:c.345+12C>T	XP_011537083.1:n.345+12C>T
XM_011538778.2:c.996+12C>T	XP_011537080.1:n.996+12C>T
XM_011538780.2:c.897+12C>T	XP_011537082.1:n.897+12C>T
XR_001748875.2:n.1017+12C>T
NM_015665.6:c.996+12C>T MANE Select	NP_056480.1:n.996+12C>T
NM_001173466.2:c.897+12C>T	NP_001166937.1:n.897+12C>T