Canonical Allele Identifier: CA385035022

Gene: AAAS

Linked Data

• ClinVar Variation Id: 1963682
• ClinVar RCV Id: RCV002716080
• dbSNP Id: rs1476957324
• gnomAD v2: 12-53701360-A-C
• gnomAD v3: 12-53307576-A-C
• gnomAD v4: 12-53307576-A-C
• MyVariant Identifiers: chr12:g.53701360A>C (hg19) ; chr12:g.53307576A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307576A>C , CM000674.2:g.53307576A>C	GRCh38
NC_000012.11:g.53701360A>C , CM000674.1:g.53701360A>C	GRCh37
NC_000012.10:g.51987627A>C	NCBI36
NG_016775.1:g.19053T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1554T>G MANE Select	ENSP00000209873.4:p.Phe518Leu
ENST00000546562.6:n.2618T>G
ENST00000547238.6:n.2190T>G
ENST00000547520.6:n.1670T>G
ENST00000547757.2:c.*472T>G	ENSP00000448020.2:n.*472T>G
ENST00000548931.6:c.989T>G	ENSP00000457518.1:p.Leu330Ter
ENST00000549450.6:n.1488T>G
ENST00000672797.1:n.2043T>G
ENST00000209873.8:c.1554T>G	ENSP00000209873.4:p.Phe518Leu
ENST00000394384.7:c.1455T>G	ENSP00000377908.3:p.Phe485Leu
ENST00000548931.5:c.989T>G	ENSP00000457518.1:p.Leu330Ter
ENST00000550286.5:c.1182T>G	ENSP00000446885.1:p.Phe394Leu
ENST00000552876.5:n.1897T>G
NM_001173466.1:c.1455T>G	NP_001166937.1:p.Phe485Leu
NM_015665.5:c.1554T>G	NP_056480.1:p.Phe518Leu
XM_006719617.2:c.1569T>G	XP_006719680.1:p.Phe523Leu
XM_011538777.1:c.1611T>G	XP_011537079.1:p.Phe537Leu
XM_011538778.1:c.1596T>G	XP_011537080.1:p.Phe532Leu
XM_011538779.1:c.1512T>G	XP_011537081.1:p.Phe504Leu
XM_011538780.1:c.1497T>G	XP_011537082.1:p.Phe499Leu
XM_011538781.1:c.945T>G	XP_011537083.1:p.Phe315Leu
XM_011538778.2:c.1596T>G	XP_011537080.1:p.Phe532Leu
XM_011538780.2:c.1497T>G	XP_011537082.1:p.Phe499Leu
XR_001748875.2:n.1611T>G
NM_015665.6:c.1554T>G MANE Select	NP_056480.1:p.Phe518Leu
NM_001173466.2:c.1455T>G	NP_001166937.1:p.Phe485Leu