Canonical Allele Identifier: CA385040759

Gene: AAAS

Linked Data

• gnomAD v4: 12-53308801-G-C
• MyVariant Identifiers: chr12:g.53702585G>C (hg19) ; chr12:g.53308801G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308801G>C , CM000674.2:g.53308801G>C	GRCh38
NC_000012.11:g.53702585G>C , CM000674.1:g.53702585G>C	GRCh37
NC_000012.10:g.51988852G>C	NCBI36
NG_016775.1:g.17828C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1011C>G MANE Select	ENSP00000209873.4:p.Ser337Arg
ENST00000546393.7:n.1856C>G
ENST00000546562.6:n.2075C>G
ENST00000547238.6:n.1647C>G
ENST00000547520.6:n.1005C>G
ENST00000547757.2:c.60C>G	ENSP00000448020.2:p.Ser20Arg
ENST00000548880.2:n.1461C>G
ENST00000548931.6:c.531C>G	ENSP00000457518.1:p.Ser177Arg
ENST00000549450.6:n.945C>G
ENST00000552161.6:n.1967C>G
ENST00000672797.1:n.1500C>G
ENST00000672900.1:n.1953C>G
ENST00000209873.8:c.1011C>G	ENSP00000209873.4:p.Ser337Arg
ENST00000394384.7:c.912C>G	ENSP00000377908.3:p.Ser304Arg
ENST00000547520.5:n.715C>G
ENST00000548931.5:c.531C>G	ENSP00000457518.1:p.Ser177Arg
ENST00000550033.5:n.266C>G
ENST00000550286.5:c.639C>G	ENSP00000446885.1:p.Ser213Arg
ENST00000552876.5:n.1354C>G
NM_001173466.1:c.912C>G	NP_001166937.1:p.Ser304Arg
NM_015665.5:c.1011C>G	NP_056480.1:p.Ser337Arg
XM_006719617.2:c.1026C>G	XP_006719680.1:p.Ser342Arg
XM_006719619.2:c.*21C>G	XP_006719682.1:n.*21C>G
XM_011538777.1:c.1026C>G	XP_011537079.1:p.Ser342Arg
XM_011538778.1:c.1011C>G	XP_011537080.1:p.Ser337Arg
XM_011538779.1:c.927C>G	XP_011537081.1:p.Ser309Arg
XM_011538780.1:c.912C>G	XP_011537082.1:p.Ser304Arg
XM_011538781.1:c.360C>G	XP_011537083.1:p.Ser120Arg
XM_011538778.2:c.1011C>G	XP_011537080.1:p.Ser337Arg
XM_011538780.2:c.912C>G	XP_011537082.1:p.Ser304Arg
XR_001748875.2:n.1068C>G
NM_015665.6:c.1011C>G MANE Select	NP_056480.1:p.Ser337Arg
NM_001173466.2:c.912C>G	NP_001166937.1:p.Ser304Arg