Canonical Allele Identifier: CA385035084

Gene: AAAS

Linked Data

• gnomAD v4: 12-53307584-G-A
• MyVariant Identifiers: chr12:g.53701368G>A (hg19) ; chr12:g.53307584G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307584G>A , CM000674.2:g.53307584G>A	GRCh38
NC_000012.11:g.53701368G>A , CM000674.1:g.53701368G>A	GRCh37
NC_000012.10:g.51987635G>A	NCBI36
NG_016775.1:g.19045C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1546C>T MANE Select	ENSP00000209873.4:p.Pro516Ser
ENST00000546562.6:n.2610C>T
ENST00000547238.6:n.2182C>T
ENST00000547520.6:n.1662C>T
ENST00000547757.2:c.*464C>T	ENSP00000448020.2:n.*464C>T
ENST00000548931.6:c.981C>T	ENSP00000457518.1:p.Cys327=
ENST00000549450.6:n.1480C>T
ENST00000672797.1:n.2035C>T
ENST00000209873.8:c.1546C>T	ENSP00000209873.4:p.Pro516Ser
ENST00000394384.7:c.1447C>T	ENSP00000377908.3:p.Pro483Ser
ENST00000548931.5:c.981C>T	ENSP00000457518.1:p.Cys327=
ENST00000550286.5:c.1174C>T	ENSP00000446885.1:p.Pro392Ser
ENST00000552876.5:n.1889C>T
NM_001173466.1:c.1447C>T	NP_001166937.1:p.Pro483Ser
NM_015665.5:c.1546C>T	NP_056480.1:p.Pro516Ser
XM_006719617.2:c.1561C>T	XP_006719680.1:p.Pro521Ser
XM_011538777.1:c.1603C>T	XP_011537079.1:p.Pro535Ser
XM_011538778.1:c.1588C>T	XP_011537080.1:p.Pro530Ser
XM_011538779.1:c.1504C>T	XP_011537081.1:p.Pro502Ser
XM_011538780.1:c.1489C>T	XP_011537082.1:p.Pro497Ser
XM_011538781.1:c.937C>T	XP_011537083.1:p.Pro313Ser
XM_011538778.2:c.1588C>T	XP_011537080.1:p.Pro530Ser
XM_011538780.2:c.1489C>T	XP_011537082.1:p.Pro497Ser
XR_001748875.2:n.1603C>T
NM_015665.6:c.1546C>T MANE Select	NP_056480.1:p.Pro516Ser
NM_001173466.2:c.1447C>T	NP_001166937.1:p.Pro483Ser