Canonical Allele Identifier: CA6598901

Gene: AAAS

Linked Data

• ClinVar Variation Id: 2959238
• ClinVar RCV Id: RCV003819437
• dbSNP Id: rs768319804
• ExAC: 12:53701880 G / T
• gnomAD v2: 12-53701880-G-T
• gnomAD v3: 12-53308096-G-T
• gnomAD v4: 12-53308096-G-T
• MyVariant Identifiers: chr12:g.53701880G>T (hg19) ; chr12:g.53308096G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308096G>T , CM000674.2:g.53308096G>T	GRCh38
NC_000012.11:g.53701880G>T , CM000674.1:g.53701880G>T	GRCh37
NC_000012.10:g.51988147G>T	NCBI36
NG_016775.1:g.18533C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000209873.9:c.1287C>A MANE Select	ENSP00000209873.4:p.Leu429=
ENST00000546562.6:n.2351C>A
ENST00000547238.6:n.1923C>A
ENST00000547520.6:n.1281C>A
ENST00000547757.2:c.336C>A	ENSP00000448020.2:p.Leu112=
ENST00000548880.2:n.1737C>A
ENST00000548931.6:c.807C>A	ENSP00000457518.1:p.Leu269=
ENST00000549450.6:n.1221C>A
ENST00000552161.6:n.2243C>A
ENST00000672797.1:n.1776C>A
ENST00000672900.1:n.2377C>A
ENST00000209873.8:c.1287C>A	ENSP00000209873.4:p.Leu429=
ENST00000394384.7:c.1188C>A	ENSP00000377908.3:p.Leu396=
ENST00000548931.5:c.807C>A	ENSP00000457518.1:p.Leu269=
ENST00000550033.5:n.542C>A
ENST00000550286.5:c.915C>A	ENSP00000446885.1:p.Leu305=
ENST00000552876.5:n.1630C>A
NM_001173466.1:c.1188C>A	NP_001166937.1:p.Leu396=
NM_015665.5:c.1287C>A	NP_056480.1:p.Leu429=
XM_006719617.2:c.1302C>A	XP_006719680.1:p.Leu434=
XM_011538777.1:c.1302C>A	XP_011537079.1:p.Leu434=
XM_011538778.1:c.1287C>A	XP_011537080.1:p.Leu429=
XM_011538779.1:c.1203C>A	XP_011537081.1:p.Leu401=
XM_011538780.1:c.1188C>A	XP_011537082.1:p.Leu396=
XM_011538781.1:c.636C>A	XP_011537083.1:p.Leu212=
XM_011538778.2:c.1287C>A	XP_011537080.1:p.Leu429=
XM_011538780.2:c.1188C>A	XP_011537082.1:p.Leu396=
XR_001748875.2:n.1344C>A
NM_015665.6:c.1287C>A MANE Select	NP_056480.1:p.Leu429=
NM_001173466.2:c.1188C>A	NP_001166937.1:p.Leu396=