Canonical Allele Identifier: CA385035273

Gene: AAAS

Linked Data

• gnomAD v4: 12-53307611-C-A
• MyVariant Identifiers: chr12:g.53701395C>A (hg19) ; chr12:g.53307611C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307611C>A , CM000674.2:g.53307611C>A	GRCh38
NC_000012.11:g.53701395C>A , CM000674.1:g.53701395C>A	GRCh37
NC_000012.10:g.51987662C>A	NCBI36
NG_016775.1:g.19018G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1519G>T MANE Select	ENSP00000209873.4:p.Gly507Trp
ENST00000546562.6:n.2583G>T
ENST00000547238.6:n.2155G>T
ENST00000547520.6:n.1635G>T
ENST00000547757.2:c.*437G>T	ENSP00000448020.2:n.*437G>T
ENST00000548931.6:c.954G>T	ENSP00000457518.1:p.Leu318=
ENST00000549450.6:n.1453G>T
ENST00000672797.1:n.2008G>T
ENST00000209873.8:c.1519G>T	ENSP00000209873.4:p.Gly507Trp
ENST00000394384.7:c.1420G>T	ENSP00000377908.3:p.Gly474Trp
ENST00000548931.5:c.954G>T	ENSP00000457518.1:p.Leu318=
ENST00000550286.5:c.1147G>T	ENSP00000446885.1:p.Gly383Trp
ENST00000552876.5:n.1862G>T
NM_001173466.1:c.1420G>T	NP_001166937.1:p.Gly474Trp
NM_015665.5:c.1519G>T	NP_056480.1:p.Gly507Trp
XM_006719617.2:c.1534G>T	XP_006719680.1:p.Gly512Trp
XM_011538777.1:c.1576G>T	XP_011537079.1:p.Gly526Trp
XM_011538778.1:c.1561G>T	XP_011537080.1:p.Gly521Trp
XM_011538779.1:c.1477G>T	XP_011537081.1:p.Gly493Trp
XM_011538780.1:c.1462G>T	XP_011537082.1:p.Gly488Trp
XM_011538781.1:c.910G>T	XP_011537083.1:p.Gly304Trp
XM_011538778.2:c.1561G>T	XP_011537080.1:p.Gly521Trp
XM_011538780.2:c.1462G>T	XP_011537082.1:p.Gly488Trp
XR_001748875.2:n.1576G>T
NM_015665.6:c.1519G>T MANE Select	NP_056480.1:p.Gly507Trp
NM_001173466.2:c.1420G>T	NP_001166937.1:p.Gly474Trp