Canonical Allele Identifier: CA385040285

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702523A>G (hg19) ; chr12:g.53308739A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308739A>G , CM000674.2:g.53308739A>G	GRCh38
NC_000012.11:g.53702523A>G , CM000674.1:g.53702523A>G	GRCh37
NC_000012.10:g.51988790A>G	NCBI36
NG_016775.1:g.17890T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1073T>C MANE Select	ENSP00000209873.4:p.Phe358Ser
ENST00000546562.6:n.2137T>C
ENST00000547238.6:n.1709T>C
ENST00000547520.6:n.1067T>C
ENST00000547757.2:c.122T>C	ENSP00000448020.2:p.Phe41Ser
ENST00000548880.2:n.1523T>C
ENST00000548931.6:c.593T>C	ENSP00000457518.1:p.Phe198Ser
ENST00000549450.6:n.1007T>C
ENST00000552161.6:n.2029T>C
ENST00000672797.1:n.1562T>C
ENST00000672900.1:n.2015T>C
ENST00000209873.8:c.1073T>C	ENSP00000209873.4:p.Phe358Ser
ENST00000394384.7:c.974T>C	ENSP00000377908.3:p.Phe325Ser
ENST00000548931.5:c.593T>C	ENSP00000457518.1:p.Phe198Ser
ENST00000550033.5:n.328T>C
ENST00000550286.5:c.701T>C	ENSP00000446885.1:p.Phe234Ser
ENST00000552876.5:n.1416T>C
NM_001173466.1:c.974T>C	NP_001166937.1:p.Phe325Ser
NM_015665.5:c.1073T>C	NP_056480.1:p.Phe358Ser
XM_006719617.2:c.1088T>C	XP_006719680.1:p.Phe363Ser
XM_011538777.1:c.1088T>C	XP_011537079.1:p.Phe363Ser
XM_011538778.1:c.1073T>C	XP_011537080.1:p.Phe358Ser
XM_011538779.1:c.989T>C	XP_011537081.1:p.Phe330Ser
XM_011538780.1:c.974T>C	XP_011537082.1:p.Phe325Ser
XM_011538781.1:c.422T>C	XP_011537083.1:p.Phe141Ser
XM_011538778.2:c.1073T>C	XP_011537080.1:p.Phe358Ser
XM_011538780.2:c.974T>C	XP_011537082.1:p.Phe325Ser
XR_001748875.2:n.1130T>C
NM_015665.6:c.1073T>C MANE Select	NP_056480.1:p.Phe358Ser
NM_001173466.2:c.974T>C	NP_001166937.1:p.Phe325Ser