Canonical Allele Identifier: CA385037299

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701476C>A (hg19) ; chr12:g.53307692C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307692C>A , CM000674.2:g.53307692C>A	GRCh38
NC_000012.11:g.53701476C>A , CM000674.1:g.53701476C>A	GRCh37
NC_000012.10:g.51987743C>A	NCBI36
NG_016775.1:g.18937G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1438G>T MANE Select	ENSP00000209873.4:p.Ala480Ser
ENST00000546562.6:n.2502G>T
ENST00000547238.6:n.2074G>T
ENST00000547520.6:n.1554G>T
ENST00000547757.2:c.*356G>T	ENSP00000448020.2:n.*356G>T
ENST00000548880.2:n.1888G>T
ENST00000548931.6:c.873G>T	ENSP00000457518.1:p.Leu291Phe
ENST00000549450.6:n.1372G>T
ENST00000552161.6:n.2516G>T
ENST00000672797.1:n.1927G>T
ENST00000209873.8:c.1438G>T	ENSP00000209873.4:p.Ala480Ser
ENST00000394384.7:c.1339G>T	ENSP00000377908.3:p.Ala447Ser
ENST00000548931.5:c.873G>T	ENSP00000457518.1:p.Leu291Phe
ENST00000550286.5:c.1066G>T	ENSP00000446885.1:p.Ala356Ser
ENST00000552876.5:n.1781G>T
NM_001173466.1:c.1339G>T	NP_001166937.1:p.Ala447Ser
NM_015665.5:c.1438G>T	NP_056480.1:p.Ala480Ser
XM_006719617.2:c.1453G>T	XP_006719680.1:p.Ala485Ser
XM_011538777.1:c.1495G>T	XP_011537079.1:p.Ala499Ser
XM_011538778.1:c.1480G>T	XP_011537080.1:p.Ala494Ser
XM_011538779.1:c.1396G>T	XP_011537081.1:p.Ala466Ser
XM_011538780.1:c.1381G>T	XP_011537082.1:p.Ala461Ser
XM_011538781.1:c.829G>T	XP_011537083.1:p.Ala277Ser
XM_011538778.2:c.1480G>T	XP_011537080.1:p.Ala494Ser
XM_011538780.2:c.1381G>T	XP_011537082.1:p.Ala461Ser
XR_001748875.2:n.1495G>T
NM_015665.6:c.1438G>T MANE Select	NP_056480.1:p.Ala480Ser
NM_001173466.2:c.1339G>T	NP_001166937.1:p.Ala447Ser