Canonical Allele Identifier: CA385035374

Gene: AAAS

Linked Data

• gnomAD v4: 12-53307629-C-A
• MyVariant Identifiers: chr12:g.53701413C>A (hg19) ; chr12:g.53307629C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307629C>A , CM000674.2:g.53307629C>A	GRCh38
NC_000012.11:g.53701413C>A , CM000674.1:g.53701413C>A	GRCh37
NC_000012.10:g.51987680C>A	NCBI36
NG_016775.1:g.19000G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1501G>T MANE Select	ENSP00000209873.4:p.Ala501Ser
ENST00000546562.6:n.2565G>T
ENST00000547238.6:n.2137G>T
ENST00000547520.6:n.1617G>T
ENST00000547757.2:c.*419G>T	ENSP00000448020.2:n.*419G>T
ENST00000548931.6:c.936G>T	ENSP00000457518.1:p.Gly312=
ENST00000549450.6:n.1435G>T
ENST00000672797.1:n.1990G>T
ENST00000209873.8:c.1501G>T	ENSP00000209873.4:p.Ala501Ser
ENST00000394384.7:c.1402G>T	ENSP00000377908.3:p.Ala468Ser
ENST00000548931.5:c.936G>T	ENSP00000457518.1:p.Gly312=
ENST00000550286.5:c.1129G>T	ENSP00000446885.1:p.Ala377Ser
ENST00000552876.5:n.1844G>T
NM_001173466.1:c.1402G>T	NP_001166937.1:p.Ala468Ser
NM_015665.5:c.1501G>T	NP_056480.1:p.Ala501Ser
XM_006719617.2:c.1516G>T	XP_006719680.1:p.Ala506Ser
XM_011538777.1:c.1558G>T	XP_011537079.1:p.Ala520Ser
XM_011538778.1:c.1543G>T	XP_011537080.1:p.Ala515Ser
XM_011538779.1:c.1459G>T	XP_011537081.1:p.Ala487Ser
XM_011538780.1:c.1444G>T	XP_011537082.1:p.Ala482Ser
XM_011538781.1:c.892G>T	XP_011537083.1:p.Ala298Ser
XM_011538778.2:c.1543G>T	XP_011537080.1:p.Ala515Ser
XM_011538780.2:c.1444G>T	XP_011537082.1:p.Ala482Ser
XR_001748875.2:n.1558G>T
NM_015665.6:c.1501G>T MANE Select	NP_056480.1:p.Ala501Ser
NM_001173466.2:c.1402G>T	NP_001166937.1:p.Ala468Ser