Canonical Allele Identifier: CA385036720

Gene: AAAS

Linked Data

• gnomAD v4: 12-53307638-G-A
• MyVariant Identifiers: chr12:g.53701422G>A (hg19) ; chr12:g.53307638G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307638G>A , CM000674.2:g.53307638G>A	GRCh38
NC_000012.11:g.53701422G>A , CM000674.1:g.53701422G>A	GRCh37
NC_000012.10:g.51987689G>A	NCBI36
NG_016775.1:g.18991C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1492C>T MANE Select	ENSP00000209873.4:p.Leu498Phe
ENST00000546562.6:n.2556C>T
ENST00000547238.6:n.2128C>T
ENST00000547520.6:n.1608C>T
ENST00000547757.2:c.*410C>T	ENSP00000448020.2:n.*410C>T
ENST00000548931.6:c.927C>T	ENSP00000457518.1:p.Cys309=
ENST00000549450.6:n.1426C>T
ENST00000672797.1:n.1981C>T
ENST00000209873.8:c.1492C>T	ENSP00000209873.4:p.Leu498Phe
ENST00000394384.7:c.1393C>T	ENSP00000377908.3:p.Leu465Phe
ENST00000548931.5:c.927C>T	ENSP00000457518.1:p.Cys309=
ENST00000550286.5:c.1120C>T	ENSP00000446885.1:p.Leu374Phe
ENST00000552876.5:n.1835C>T
NM_001173466.1:c.1393C>T	NP_001166937.1:p.Leu465Phe
NM_015665.5:c.1492C>T	NP_056480.1:p.Leu498Phe
XM_006719617.2:c.1507C>T	XP_006719680.1:p.Leu503Phe
XM_011538777.1:c.1549C>T	XP_011537079.1:p.Leu517Phe
XM_011538778.1:c.1534C>T	XP_011537080.1:p.Leu512Phe
XM_011538779.1:c.1450C>T	XP_011537081.1:p.Leu484Phe
XM_011538780.1:c.1435C>T	XP_011537082.1:p.Leu479Phe
XM_011538781.1:c.883C>T	XP_011537083.1:p.Leu295Phe
XM_011538778.2:c.1534C>T	XP_011537080.1:p.Leu512Phe
XM_011538780.2:c.1435C>T	XP_011537082.1:p.Leu479Phe
XR_001748875.2:n.1549C>T
NM_015665.6:c.1492C>T MANE Select	NP_056480.1:p.Leu498Phe
NM_001173466.2:c.1393C>T	NP_001166937.1:p.Leu465Phe