Canonical Allele Identifier: CA385041819

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702971A>C (hg19) ; chr12:g.53309187A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309187A>C , CM000674.2:g.53309187A>C	GRCh38
NC_000012.11:g.53702971A>C , CM000674.1:g.53702971A>C	GRCh37
NC_000012.10:g.51989238A>C	NCBI36
NG_016775.1:g.17442T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.905T>G MANE Select	ENSP00000209873.4:p.Ile302Ser
ENST00000546393.7:n.1750T>G
ENST00000546562.6:n.1969T>G
ENST00000547238.6:n.1541T>G
ENST00000547520.6:n.899T>G
ENST00000547757.2:c.-47T>G	ENSP00000448020.2:n.-47T>G
ENST00000548880.2:n.1355T>G
ENST00000548931.6:c.425T>G	ENSP00000457518.1:p.Ile142Ser
ENST00000549450.6:n.839T>G
ENST00000552161.6:n.1861T>G
ENST00000672797.1:n.1358T>G
ENST00000672900.1:n.1703T>G
ENST00000209873.8:c.905T>G	ENSP00000209873.4:p.Ile302Ser
ENST00000394384.7:c.806T>G	ENSP00000377908.3:p.Ile269Ser
ENST00000546393.6:n.802T>G
ENST00000546572.1:n.357T>G
ENST00000547520.5:n.609T>G
ENST00000547757.1:c.806T>G	ENSP00000448020.1:p.Ile269Ser
ENST00000547761.6:n.797T>G
ENST00000548931.5:c.425T>G	ENSP00000457518.1:p.Ile142Ser
ENST00000550033.5:n.160T>G
ENST00000550286.5:c.533T>G	ENSP00000446885.1:p.Ile178Ser
ENST00000552876.5:n.1248T>G
NM_001173466.1:c.806T>G	NP_001166937.1:p.Ile269Ser
NM_015665.5:c.905T>G	NP_056480.1:p.Ile302Ser
XM_006719617.2:c.920T>G	XP_006719680.1:p.Ile307Ser
XM_006719619.2:c.920T>G	XP_006719682.1:p.Ile307Ser
XM_011538777.1:c.920T>G	XP_011537079.1:p.Ile307Ser
XM_011538778.1:c.905T>G	XP_011537080.1:p.Ile302Ser
XM_011538779.1:c.821T>G	XP_011537081.1:p.Ile274Ser
XM_011538780.1:c.806T>G	XP_011537082.1:p.Ile269Ser
XM_011538781.1:c.254T>G	XP_011537083.1:p.Ile85Ser
XM_011538778.2:c.905T>G	XP_011537080.1:p.Ile302Ser
XM_011538780.2:c.806T>G	XP_011537082.1:p.Ile269Ser
XR_001748875.2:n.926T>G
NM_015665.6:c.905T>G MANE Select	NP_056480.1:p.Ile302Ser
NM_001173466.2:c.806T>G	NP_001166937.1:p.Ile269Ser