Canonical Allele Identifier: CA385037309

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701477A>C (hg19) ; chr12:g.53307693A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307693A>C , CM000674.2:g.53307693A>C	GRCh38
NC_000012.11:g.53701477A>C , CM000674.1:g.53701477A>C	GRCh37
NC_000012.10:g.51987744A>C	NCBI36
NG_016775.1:g.18936T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1437T>G MANE Select	ENSP00000209873.4:p.Ile479Met
ENST00000546562.6:n.2501T>G
ENST00000547238.6:n.2073T>G
ENST00000547520.6:n.1553T>G
ENST00000547757.2:c.*355T>G	ENSP00000448020.2:n.*355T>G
ENST00000548880.2:n.1887T>G
ENST00000548931.6:c.872T>G	ENSP00000457518.1:p.Leu291Trp
ENST00000549450.6:n.1371T>G
ENST00000552161.6:n.2515T>G
ENST00000672797.1:n.1926T>G
ENST00000209873.8:c.1437T>G	ENSP00000209873.4:p.Ile479Met
ENST00000394384.7:c.1338T>G	ENSP00000377908.3:p.Ile446Met
ENST00000548931.5:c.872T>G	ENSP00000457518.1:p.Leu291Trp
ENST00000550286.5:c.1065T>G	ENSP00000446885.1:p.Ile355Met
ENST00000552876.5:n.1780T>G
NM_001173466.1:c.1338T>G	NP_001166937.1:p.Ile446Met
NM_015665.5:c.1437T>G	NP_056480.1:p.Ile479Met
XM_006719617.2:c.1452T>G	XP_006719680.1:p.Ile484Met
XM_011538777.1:c.1494T>G	XP_011537079.1:p.Ile498Met
XM_011538778.1:c.1479T>G	XP_011537080.1:p.Ile493Met
XM_011538779.1:c.1395T>G	XP_011537081.1:p.Ile465Met
XM_011538780.1:c.1380T>G	XP_011537082.1:p.Ile460Met
XM_011538781.1:c.828T>G	XP_011537083.1:p.Ile276Met
XM_011538778.2:c.1479T>G	XP_011537080.1:p.Ile493Met
XM_011538780.2:c.1380T>G	XP_011537082.1:p.Ile460Met
XR_001748875.2:n.1494T>G
NM_015665.6:c.1437T>G MANE Select	NP_056480.1:p.Ile479Met
NM_001173466.2:c.1338T>G	NP_001166937.1:p.Ile446Met