Canonical Allele Identifier: CA480081447

Gene: AAAS

Linked Data

• gnomAD v4: 12-53308060-G-A
• MyVariant Identifiers: chr12:g.53701844G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308060G>A , CM000674.2:g.53308060G>A	GRCh38
NC_000012.11:g.53701844G>A , CM000674.1:g.53701844G>A	GRCh37
NC_000012.10:g.51988111G>A	NCBI36
NG_016775.1:g.18569C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1323C>T MANE Select	ENSP00000209873.4:p.Leu441=
ENST00000546562.6:n.2387C>T
ENST00000547238.6:n.1959C>T
ENST00000547520.6:n.1317C>T
ENST00000547757.2:c.372C>T	ENSP00000448020.2:p.Leu124=
ENST00000548880.2:n.1773C>T
ENST00000548931.6:c.843C>T	ENSP00000457518.1:p.Leu281=
ENST00000549450.6:n.1257C>T
ENST00000552161.6:n.2279C>T
ENST00000672797.1:n.1812C>T
ENST00000672900.1:n.2413C>T
ENST00000209873.8:c.1323C>T	ENSP00000209873.4:p.Leu441=
ENST00000394384.7:c.1224C>T	ENSP00000377908.3:p.Leu408=
ENST00000548931.5:c.843C>T	ENSP00000457518.1:p.Leu281=
ENST00000550033.5:n.578C>T
ENST00000550286.5:c.951C>T	ENSP00000446885.1:p.Leu317=
ENST00000552876.5:n.1666C>T
NM_001173466.1:c.1224C>T	NP_001166937.1:p.Leu408=
NM_015665.5:c.1323C>T	NP_056480.1:p.Leu441=
XM_006719617.2:c.1338C>T	XP_006719680.1:p.Leu446=
XM_011538777.1:c.1338C>T	XP_011537079.1:p.Leu446=
XM_011538778.1:c.1323C>T	XP_011537080.1:p.Leu441=
XM_011538779.1:c.1239C>T	XP_011537081.1:p.Leu413=
XM_011538780.1:c.1224C>T	XP_011537082.1:p.Leu408=
XM_011538781.1:c.672C>T	XP_011537083.1:p.Leu224=
XM_011538778.2:c.1323C>T	XP_011537080.1:p.Leu441=
XM_011538780.2:c.1224C>T	XP_011537082.1:p.Leu408=
XR_001748875.2:n.1380C>T
NM_015665.6:c.1323C>T MANE Select	NP_056480.1:p.Leu441=
NM_001173466.2:c.1224C>T	NP_001166937.1:p.Leu408=