Canonical Allele Identifier: CA385036976

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701448G>C (hg19) ; chr12:g.53307664G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307664G>C , CM000674.2:g.53307664G>C	GRCh38
NC_000012.11:g.53701448G>C , CM000674.1:g.53701448G>C	GRCh37
NC_000012.10:g.51987715G>C	NCBI36
NG_016775.1:g.18965C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1466C>G MANE Select	ENSP00000209873.4:p.Ala489Gly
ENST00000546562.6:n.2530C>G
ENST00000547238.6:n.2102C>G
ENST00000547520.6:n.1582C>G
ENST00000547757.2:c.*384C>G	ENSP00000448020.2:n.*384C>G
ENST00000548880.2:n.1916C>G
ENST00000548931.6:c.901C>G	ENSP00000457518.1:p.Pro301Ala
ENST00000549450.6:n.1400C>G
ENST00000552161.6:n.2544C>G
ENST00000672797.1:n.1955C>G
ENST00000209873.8:c.1466C>G	ENSP00000209873.4:p.Ala489Gly
ENST00000394384.7:c.1367C>G	ENSP00000377908.3:p.Ala456Gly
ENST00000548931.5:c.901C>G	ENSP00000457518.1:p.Pro301Ala
ENST00000550286.5:c.1094C>G	ENSP00000446885.1:p.Ala365Gly
ENST00000552876.5:n.1809C>G
NM_001173466.1:c.1367C>G	NP_001166937.1:p.Ala456Gly
NM_015665.5:c.1466C>G	NP_056480.1:p.Ala489Gly
XM_006719617.2:c.1481C>G	XP_006719680.1:p.Ala494Gly
XM_011538777.1:c.1523C>G	XP_011537079.1:p.Ala508Gly
XM_011538778.1:c.1508C>G	XP_011537080.1:p.Ala503Gly
XM_011538779.1:c.1424C>G	XP_011537081.1:p.Ala475Gly
XM_011538780.1:c.1409C>G	XP_011537082.1:p.Ala470Gly
XM_011538781.1:c.857C>G	XP_011537083.1:p.Ala286Gly
XM_011538778.2:c.1508C>G	XP_011537080.1:p.Ala503Gly
XM_011538780.2:c.1409C>G	XP_011537082.1:p.Ala470Gly
XR_001748875.2:n.1523C>G
NM_015665.6:c.1466C>G MANE Select	NP_056480.1:p.Ala489Gly
NM_001173466.2:c.1367C>G	NP_001166937.1:p.Ala456Gly