Canonical Allele Identifier: CA385041014

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702747A>C (hg19) ; chr12:g.53308963A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308963A>C , CM000674.2:g.53308963A>C	GRCh38
NC_000012.11:g.53702747A>C , CM000674.1:g.53702747A>C	GRCh37
NC_000012.10:g.51989014A>C	NCBI36
NG_016775.1:g.17666T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.993T>G MANE Select	ENSP00000209873.4:p.Cys331Trp
ENST00000546393.7:n.1838T>G
ENST00000546562.6:n.2057T>G
ENST00000547238.6:n.1629T>G
ENST00000547520.6:n.987T>G
ENST00000547757.2:c.42T>G	ENSP00000448020.2:p.Cys14Trp
ENST00000548880.2:n.1443T>G
ENST00000548931.6:c.513T>G	ENSP00000457518.1:p.Cys171Trp
ENST00000549450.6:n.927T>G
ENST00000552161.6:n.1949T>G
ENST00000672797.1:n.1446T>G
ENST00000672900.1:n.1791T>G
ENST00000209873.8:c.993T>G	ENSP00000209873.4:p.Cys331Trp
ENST00000394384.7:c.894T>G	ENSP00000377908.3:p.Cys298Trp
ENST00000546572.1:n.581T>G
ENST00000547520.5:n.697T>G
ENST00000548931.5:c.513T>G	ENSP00000457518.1:p.Cys171Trp
ENST00000550033.5:n.248T>G
ENST00000550286.5:c.621T>G	ENSP00000446885.1:p.Cys207Trp
ENST00000552876.5:n.1336T>G
NM_001173466.1:c.894T>G	NP_001166937.1:p.Cys298Trp
NM_015665.5:c.993T>G	NP_056480.1:p.Cys331Trp
XM_006719617.2:c.1008T>G	XP_006719680.1:p.Cys336Trp
XM_006719619.2:c.1008T>G	XP_006719682.1:p.Cys336Trp
XM_011538777.1:c.1008T>G	XP_011537079.1:p.Cys336Trp
XM_011538778.1:c.993T>G	XP_011537080.1:p.Cys331Trp
XM_011538779.1:c.909T>G	XP_011537081.1:p.Cys303Trp
XM_011538780.1:c.894T>G	XP_011537082.1:p.Cys298Trp
XM_011538781.1:c.342T>G	XP_011537083.1:p.Cys114Trp
XM_011538778.2:c.993T>G	XP_011537080.1:p.Cys331Trp
XM_011538780.2:c.894T>G	XP_011537082.1:p.Cys298Trp
XR_001748875.2:n.1014T>G
NM_015665.6:c.993T>G MANE Select	NP_056480.1:p.Cys331Trp
NM_001173466.2:c.894T>G	NP_001166937.1:p.Cys298Trp