Canonical Allele Identifier: CA385035191

Gene: AAAS

Linked Data

• gnomAD v4: 12-53307598-G-A
• MyVariant Identifiers: chr12:g.53701382G>A (hg19) ; chr12:g.53307598G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307598G>A , CM000674.2:g.53307598G>A	GRCh38
NC_000012.11:g.53701382G>A , CM000674.1:g.53701382G>A	GRCh37
NC_000012.10:g.51987649G>A	NCBI36
NG_016775.1:g.19031C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000209873.9:c.1532C>T MANE Select	ENSP00000209873.4:p.Ser511Phe
ENST00000546562.6:n.2596C>T
ENST00000547238.6:n.2168C>T
ENST00000547520.6:n.1648C>T
ENST00000547757.2:c.*450C>T	ENSP00000448020.2:n.*450C>T
ENST00000548931.6:c.967C>T	ENSP00000457518.1:p.Leu323=
ENST00000549450.6:n.1466C>T
ENST00000672797.1:n.2021C>T
ENST00000209873.8:c.1532C>T	ENSP00000209873.4:p.Ser511Phe
ENST00000394384.7:c.1433C>T	ENSP00000377908.3:p.Ser478Phe
ENST00000548931.5:c.967C>T	ENSP00000457518.1:p.Leu323=
ENST00000550286.5:c.1160C>T	ENSP00000446885.1:p.Ser387Phe
ENST00000552876.5:n.1875C>T
NM_001173466.1:c.1433C>T	NP_001166937.1:p.Ser478Phe
NM_015665.5:c.1532C>T	NP_056480.1:p.Ser511Phe
XM_006719617.2:c.1547C>T	XP_006719680.1:p.Ser516Phe
XM_011538777.1:c.1589C>T	XP_011537079.1:p.Ser530Phe
XM_011538778.1:c.1574C>T	XP_011537080.1:p.Ser525Phe
XM_011538779.1:c.1490C>T	XP_011537081.1:p.Ser497Phe
XM_011538780.1:c.1475C>T	XP_011537082.1:p.Ser492Phe
XM_011538781.1:c.923C>T	XP_011537083.1:p.Ser308Phe
XM_011538778.2:c.1574C>T	XP_011537080.1:p.Ser525Phe
XM_011538780.2:c.1475C>T	XP_011537082.1:p.Ser492Phe
XR_001748875.2:n.1589C>T
NM_015665.6:c.1532C>T MANE Select	NP_056480.1:p.Ser511Phe
NM_001173466.2:c.1433C>T	NP_001166937.1:p.Ser478Phe