Canonical Allele Identifier: CA385037302

Gene: AAAS

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1438G>C MANE Select	ENSP00000209873.4:p.Ala480Pro
ENST00000546562.6:n.2502G>C
ENST00000547238.6:n.2074G>C
ENST00000547520.6:n.1554G>C
ENST00000547757.2:c.*356G>C	ENSP00000448020.2:n.*356G>C
ENST00000548880.2:n.1888G>C
ENST00000548931.6:c.873G>C	ENSP00000457518.1:p.Leu291Phe
ENST00000549450.6:n.1372G>C
ENST00000552161.6:n.2516G>C
ENST00000672797.1:n.1927G>C
ENST00000209873.8:c.1438G>C	ENSP00000209873.4:p.Ala480Pro
ENST00000394384.7:c.1339G>C	ENSP00000377908.3:p.Ala447Pro
ENST00000548931.5:c.873G>C	ENSP00000457518.1:p.Leu291Phe
ENST00000550286.5:c.1066G>C	ENSP00000446885.1:p.Ala356Pro
ENST00000552876.5:n.1781G>C
NM_001173466.1:c.1339G>C	NP_001166937.1:p.Ala447Pro
NM_015665.5:c.1438G>C	NP_056480.1:p.Ala480Pro
XM_006719617.2:c.1453G>C	XP_006719680.1:p.Ala485Pro
XM_011538777.1:c.1495G>C	XP_011537079.1:p.Ala499Pro
XM_011538778.1:c.1480G>C	XP_011537080.1:p.Ala494Pro
XM_011538779.1:c.1396G>C	XP_011537081.1:p.Ala466Pro
XM_011538780.1:c.1381G>C	XP_011537082.1:p.Ala461Pro
XM_011538781.1:c.829G>C	XP_011537083.1:p.Ala277Pro
XM_011538778.2:c.1480G>C	XP_011537080.1:p.Ala494Pro
XM_011538780.2:c.1381G>C	XP_011537082.1:p.Ala461Pro
XR_001748875.2:n.1495G>C
NM_015665.6:c.1438G>C MANE Select	NP_056480.1:p.Ala480Pro
NM_001173466.2:c.1339G>C	NP_001166937.1:p.Ala447Pro