Canonical Allele Identifier: CA385040575

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702562A>C (hg19) ; chr12:g.53308778A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308778A>C , CM000674.2:g.53308778A>C	GRCh38
NC_000012.11:g.53702562A>C , CM000674.1:g.53702562A>C	GRCh37
NC_000012.10:g.51988829A>C	NCBI36
NG_016775.1:g.17851T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1034T>G MANE Select	ENSP00000209873.4:p.Phe345Cys
ENST00000546393.7:n.1879T>G
ENST00000546562.6:n.2098T>G
ENST00000547238.6:n.1670T>G
ENST00000547520.6:n.1028T>G
ENST00000547757.2:c.83T>G	ENSP00000448020.2:p.Phe28Cys
ENST00000548880.2:n.1484T>G
ENST00000548931.6:c.554T>G	ENSP00000457518.1:p.Phe185Cys
ENST00000549450.6:n.968T>G
ENST00000552161.6:n.1990T>G
ENST00000672797.1:n.1523T>G
ENST00000672900.1:n.1976T>G
ENST00000209873.8:c.1034T>G	ENSP00000209873.4:p.Phe345Cys
ENST00000394384.7:c.935T>G	ENSP00000377908.3:p.Phe312Cys
ENST00000547520.5:n.738T>G
ENST00000548931.5:c.554T>G	ENSP00000457518.1:p.Phe185Cys
ENST00000550033.5:n.289T>G
ENST00000550286.5:c.662T>G	ENSP00000446885.1:p.Phe221Cys
ENST00000552876.5:n.1377T>G
NM_001173466.1:c.935T>G	NP_001166937.1:p.Phe312Cys
NM_015665.5:c.1034T>G	NP_056480.1:p.Phe345Cys
XM_006719617.2:c.1049T>G	XP_006719680.1:p.Phe350Cys
XM_006719619.2:c.*44T>G	XP_006719682.1:n.*44T>G
XM_011538777.1:c.1049T>G	XP_011537079.1:p.Phe350Cys
XM_011538778.1:c.1034T>G	XP_011537080.1:p.Phe345Cys
XM_011538779.1:c.950T>G	XP_011537081.1:p.Phe317Cys
XM_011538780.1:c.935T>G	XP_011537082.1:p.Phe312Cys
XM_011538781.1:c.383T>G	XP_011537083.1:p.Phe128Cys
XM_011538778.2:c.1034T>G	XP_011537080.1:p.Phe345Cys
XM_011538780.2:c.935T>G	XP_011537082.1:p.Phe312Cys
XR_001748875.2:n.1091T>G
NM_015665.6:c.1034T>G MANE Select	NP_056480.1:p.Phe345Cys
NM_001173466.2:c.935T>G	NP_001166937.1:p.Phe312Cys