Canonical Allele Identifier: CA6599372

Gene: AAAS

Linked Data

• ClinVar Variation Id: 309741
• ClinVar RCV Id: RCV000313149
• dbSNP Id: rs774899476
• ExAC: 12:53715185 T / C
• gnomAD v2: 12-53715185-T-C
• gnomAD v4: 12-53321401-T-C
• MyVariant Identifiers: chr12:g.53715185T>C (hg19) ; chr12:g.53321401T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53321401T>C , CM000674.2:g.53321401T>C	GRCh38
NC_000012.11:g.53715185T>C , CM000674.1:g.53715185T>C	GRCh37
NC_000012.10:g.52001452T>C	NCBI36
NG_016775.1:g.5228A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.65A>G MANE Select	ENSP00000209873.4:p.Asn22Ser
ENST00000546393.7:n.163A>G
ENST00000546562.6:n.140+70A>G
ENST00000548880.2:n.215A>G
ENST00000209873.8:c.65A>G	ENSP00000209873.4:p.Asn22Ser
ENST00000394384.7:c.65A>G	ENSP00000377908.3:p.Asn22Ser
ENST00000546562.5:n.140+70A>G
ENST00000547757.1:c.65A>G	ENSP00000448020.1:p.Asn22Ser
ENST00000547761.6:n.107+476A>G
ENST00000548258.5:n.152-709A>G
ENST00000548880.1:n.160A>G
ENST00000549821.5:n.121+476A>G
ENST00000549983.5:n.146+70A>G
ENST00000550286.5:c.-157-709A>G	ENSP00000446885.1:n.-157-709A>G
ENST00000551724.5:n.174-709A>G
ENST00000552161.5:n.160A>G
NM_001173466.1:c.65A>G	NP_001166937.1:p.Asn22Ser
NM_015665.5:c.65A>G	NP_056480.1:p.Asn22Ser
XM_011538778.1:c.65A>G	XP_011537080.1:p.Asn22Ser
XM_011538780.1:c.65A>G	XP_011537082.1:p.Asn22Ser
XM_011538778.2:c.65A>G	XP_011537080.1:p.Asn22Ser
XM_011538780.2:c.65A>G	XP_011537082.1:p.Asn22Ser
XR_001748875.2:n.185A>G
NM_015665.6:c.65A>G MANE Select	NP_056480.1:p.Asn22Ser
NM_001173466.2:c.65A>G	NP_001166937.1:p.Asn22Ser