Canonical Allele Identifier: CA479918417

Gene: AAAS

Linked Data

• gnomAD v4: 12-53308746-G-A
• MyVariant Identifiers: chr12:g.53702530G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308746G>A , CM000674.2:g.53308746G>A	GRCh38
NC_000012.11:g.53702530G>A , CM000674.1:g.53702530G>A	GRCh37
NC_000012.10:g.51988797G>A	NCBI36
NG_016775.1:g.17883C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1066C>T MANE Select	ENSP00000209873.4:p.Leu356=
ENST00000546562.6:n.2130C>T
ENST00000547238.6:n.1702C>T
ENST00000547520.6:n.1060C>T
ENST00000547757.2:c.115C>T	ENSP00000448020.2:p.Leu39=
ENST00000548880.2:n.1516C>T
ENST00000548931.6:c.586C>T	ENSP00000457518.1:p.Leu196=
ENST00000549450.6:n.1000C>T
ENST00000552161.6:n.2022C>T
ENST00000672797.1:n.1555C>T
ENST00000672900.1:n.2008C>T
ENST00000209873.8:c.1066C>T	ENSP00000209873.4:p.Leu356=
ENST00000394384.7:c.967C>T	ENSP00000377908.3:p.Leu323=
ENST00000548931.5:c.586C>T	ENSP00000457518.1:p.Leu196=
ENST00000550033.5:n.321C>T
ENST00000550286.5:c.694C>T	ENSP00000446885.1:p.Leu232=
ENST00000552876.5:n.1409C>T
NM_001173466.1:c.967C>T	NP_001166937.1:p.Leu323=
NM_015665.5:c.1066C>T	NP_056480.1:p.Leu356=
XM_006719617.2:c.1081C>T	XP_006719680.1:p.Leu361=
XM_011538777.1:c.1081C>T	XP_011537079.1:p.Leu361=
XM_011538778.1:c.1066C>T	XP_011537080.1:p.Leu356=
XM_011538779.1:c.982C>T	XP_011537081.1:p.Leu328=
XM_011538780.1:c.967C>T	XP_011537082.1:p.Leu323=
XM_011538781.1:c.415C>T	XP_011537083.1:p.Leu139=
XM_011538778.2:c.1066C>T	XP_011537080.1:p.Leu356=
XM_011538780.2:c.967C>T	XP_011537082.1:p.Leu323=
XR_001748875.2:n.1123C>T
NM_015665.6:c.1066C>T MANE Select	NP_056480.1:p.Leu356=
NM_001173466.2:c.967C>T	NP_001166937.1:p.Leu323=