Canonical Allele Identifier: CA385034794

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701331C>A (hg19) ; chr12:g.53307547C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307547C>A , CM000674.2:g.53307547C>A	GRCh38
NC_000012.11:g.53701331C>A , CM000674.1:g.53701331C>A	GRCh37
NC_000012.10:g.51987598C>A	NCBI36
NG_016775.1:g.19082G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1583G>T MANE Select	ENSP00000209873.4:p.Trp528Leu
ENST00000546562.6:n.2647G>T
ENST00000547238.6:n.2219G>T
ENST00000547520.6:n.1699G>T
ENST00000547757.2:c.*501G>T	ENSP00000448020.2:n.*501G>T
ENST00000548931.6:c.1018G>T	ENSP00000457518.1:p.Gly340Trp
ENST00000549450.6:n.1517G>T
ENST00000672797.1:n.2072G>T
ENST00000209873.8:c.1583G>T	ENSP00000209873.4:p.Trp528Leu
ENST00000394384.7:c.1484G>T	ENSP00000377908.3:p.Trp495Leu
ENST00000548931.5:c.1018G>T	ENSP00000457518.1:p.Gly340Trp
ENST00000550286.5:c.1211G>T	ENSP00000446885.1:p.Trp404Leu
ENST00000552876.5:n.1926G>T
NM_001173466.1:c.1484G>T	NP_001166937.1:p.Trp495Leu
NM_015665.5:c.1583G>T	NP_056480.1:p.Trp528Leu
XM_006719617.2:c.1598G>T	XP_006719680.1:p.Trp533Leu
XM_011538777.1:c.1640G>T	XP_011537079.1:p.Trp547Leu
XM_011538778.1:c.1625G>T	XP_011537080.1:p.Trp542Leu
XM_011538779.1:c.1541G>T	XP_011537081.1:p.Trp514Leu
XM_011538780.1:c.1526G>T	XP_011537082.1:p.Trp509Leu
XM_011538781.1:c.974G>T	XP_011537083.1:p.Trp325Leu
XM_011538778.2:c.1625G>T	XP_011537080.1:p.Trp542Leu
XM_011538780.2:c.1526G>T	XP_011537082.1:p.Trp509Leu
XR_001748875.2:n.1640G>T
NM_015665.6:c.1583G>T MANE Select	NP_056480.1:p.Trp528Leu
NM_001173466.2:c.1484G>T	NP_001166937.1:p.Trp495Leu