Canonical Allele Identifier: CA385038725

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701884A>C (hg19) ; chr12:g.53308100A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308100A>C , CM000674.2:g.53308100A>C	GRCh38
NC_000012.11:g.53701884A>C , CM000674.1:g.53701884A>C	GRCh37
NC_000012.10:g.51988151A>C	NCBI36
NG_016775.1:g.18529T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000209873.9:c.1283T>G MANE Select	ENSP00000209873.4:p.Ile428Ser
ENST00000546562.6:n.2347T>G
ENST00000547238.6:n.1919T>G
ENST00000547520.6:n.1277T>G
ENST00000547757.2:c.332T>G	ENSP00000448020.2:p.Ile111Ser
ENST00000548880.2:n.1733T>G
ENST00000548931.6:c.803T>G	ENSP00000457518.1:p.Ile268Ser
ENST00000549450.6:n.1217T>G
ENST00000552161.6:n.2239T>G
ENST00000672797.1:n.1772T>G
ENST00000672900.1:n.2373T>G
ENST00000209873.8:c.1283T>G	ENSP00000209873.4:p.Ile428Ser
ENST00000394384.7:c.1184T>G	ENSP00000377908.3:p.Ile395Ser
ENST00000548931.5:c.803T>G	ENSP00000457518.1:p.Ile268Ser
ENST00000550033.5:n.538T>G
ENST00000550286.5:c.911T>G	ENSP00000446885.1:p.Ile304Ser
ENST00000552876.5:n.1626T>G
NM_001173466.1:c.1184T>G	NP_001166937.1:p.Ile395Ser
NM_015665.5:c.1283T>G	NP_056480.1:p.Ile428Ser
XM_006719617.2:c.1298T>G	XP_006719680.1:p.Ile433Ser
XM_011538777.1:c.1298T>G	XP_011537079.1:p.Ile433Ser
XM_011538778.1:c.1283T>G	XP_011537080.1:p.Ile428Ser
XM_011538779.1:c.1199T>G	XP_011537081.1:p.Ile400Ser
XM_011538780.1:c.1184T>G	XP_011537082.1:p.Ile395Ser
XM_011538781.1:c.632T>G	XP_011537083.1:p.Ile211Ser
XM_011538778.2:c.1283T>G	XP_011537080.1:p.Ile428Ser
XM_011538780.2:c.1184T>G	XP_011537082.1:p.Ile395Ser
XR_001748875.2:n.1340T>G
NM_015665.6:c.1283T>G MANE Select	NP_056480.1:p.Ile428Ser
NM_001173466.2:c.1184T>G	NP_001166937.1:p.Ile395Ser