Canonical Allele Identifier: CA385041350

Gene: AAAS

Linked Data

• dbSNP Id: rs1353207532
• gnomAD v2: 12-53702785-A-C
• gnomAD v3: 12-53309001-A-C
• gnomAD v4: 12-53309001-A-C
• MyVariant Identifiers: chr12:g.53702785A>C (hg19) ; chr12:g.53309001A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309001A>C , CM000674.2:g.53309001A>C	GRCh38
NC_000012.11:g.53702785A>C , CM000674.1:g.53702785A>C	GRCh37
NC_000012.10:g.51989052A>C	NCBI36
NG_016775.1:g.17628T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.955T>G MANE Select	ENSP00000209873.4:p.Trp319Gly
ENST00000546393.7:n.1800T>G
ENST00000546562.6:n.2019T>G
ENST00000547238.6:n.1591T>G
ENST00000547520.6:n.949T>G
ENST00000547757.2:c.4T>G	ENSP00000448020.2:p.Trp2Gly
ENST00000548880.2:n.1405T>G
ENST00000548931.6:c.475T>G	ENSP00000457518.1:p.Trp159Gly
ENST00000549450.6:n.889T>G
ENST00000552161.6:n.1911T>G
ENST00000672797.1:n.1408T>G
ENST00000672900.1:n.1753T>G
ENST00000209873.8:c.955T>G	ENSP00000209873.4:p.Trp319Gly
ENST00000394384.7:c.856T>G	ENSP00000377908.3:p.Trp286Gly
ENST00000546572.1:n.543T>G
ENST00000547520.5:n.659T>G
ENST00000548931.5:c.475T>G	ENSP00000457518.1:p.Trp159Gly
ENST00000550033.5:n.210T>G
ENST00000550286.5:c.583T>G	ENSP00000446885.1:p.Trp195Gly
ENST00000552876.5:n.1298T>G
NM_001173466.1:c.856T>G	NP_001166937.1:p.Trp286Gly
NM_015665.5:c.955T>G	NP_056480.1:p.Trp319Gly
XM_006719617.2:c.970T>G	XP_006719680.1:p.Trp324Gly
XM_006719619.2:c.970T>G	XP_006719682.1:p.Trp324Gly
XM_011538777.1:c.970T>G	XP_011537079.1:p.Trp324Gly
XM_011538778.1:c.955T>G	XP_011537080.1:p.Trp319Gly
XM_011538779.1:c.871T>G	XP_011537081.1:p.Trp291Gly
XM_011538780.1:c.856T>G	XP_011537082.1:p.Trp286Gly
XM_011538781.1:c.304T>G	XP_011537083.1:p.Trp102Gly
XM_011538778.2:c.955T>G	XP_011537080.1:p.Trp319Gly
XM_011538780.2:c.856T>G	XP_011537082.1:p.Trp286Gly
XR_001748875.2:n.976T>G
NM_015665.6:c.955T>G MANE Select	NP_056480.1:p.Trp319Gly
NM_001173466.2:c.856T>G	NP_001166937.1:p.Trp286Gly