Canonical Allele Identifier: CA385035012

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701358G>C (hg19) ; chr12:g.53307574G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307574G>C , CM000674.2:g.53307574G>C	GRCh38
NC_000012.11:g.53701358G>C , CM000674.1:g.53701358G>C	GRCh37
NC_000012.10:g.51987625G>C	NCBI36
NG_016775.1:g.19055C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1556C>G MANE Select	ENSP00000209873.4:p.Thr519Ser
ENST00000546562.6:n.2620C>G
ENST00000547238.6:n.2192C>G
ENST00000547520.6:n.1672C>G
ENST00000547757.2:c.*474C>G	ENSP00000448020.2:n.*474C>G
ENST00000548931.6:c.991C>G	ENSP00000457518.1:p.Leu331Val
ENST00000549450.6:n.1490C>G
ENST00000672797.1:n.2045C>G
ENST00000209873.8:c.1556C>G	ENSP00000209873.4:p.Thr519Ser
ENST00000394384.7:c.1457C>G	ENSP00000377908.3:p.Thr486Ser
ENST00000548931.5:c.991C>G	ENSP00000457518.1:p.Leu331Val
ENST00000550286.5:c.1184C>G	ENSP00000446885.1:p.Thr395Ser
ENST00000552876.5:n.1899C>G
NM_001173466.1:c.1457C>G	NP_001166937.1:p.Thr486Ser
NM_015665.5:c.1556C>G	NP_056480.1:p.Thr519Ser
XM_006719617.2:c.1571C>G	XP_006719680.1:p.Thr524Ser
XM_011538777.1:c.1613C>G	XP_011537079.1:p.Thr538Ser
XM_011538778.1:c.1598C>G	XP_011537080.1:p.Thr533Ser
XM_011538779.1:c.1514C>G	XP_011537081.1:p.Thr505Ser
XM_011538780.1:c.1499C>G	XP_011537082.1:p.Thr500Ser
XM_011538781.1:c.947C>G	XP_011537083.1:p.Thr316Ser
XM_011538778.2:c.1598C>G	XP_011537080.1:p.Thr533Ser
XM_011538780.2:c.1499C>G	XP_011537082.1:p.Thr500Ser
XR_001748875.2:n.1613C>G
NM_015665.6:c.1556C>G MANE Select	NP_056480.1:p.Thr519Ser
NM_001173466.2:c.1457C>G	NP_001166937.1:p.Thr486Ser