Canonical Allele Identifier: CA479918445

Gene: AAAS

Linked Data

• gnomAD v4: 12-53308783-C-A
• MyVariant Identifiers: chr12:g.53702567C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308783C>A , CM000674.2:g.53308783C>A	GRCh38
NC_000012.11:g.53702567C>A , CM000674.1:g.53702567C>A	GRCh37
NC_000012.10:g.51988834C>A	NCBI36
NG_016775.1:g.17846G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1029G>T MANE Select	ENSP00000209873.4:p.Leu343=
ENST00000546393.7:n.1874G>T
ENST00000546562.6:n.2093G>T
ENST00000547238.6:n.1665G>T
ENST00000547520.6:n.1023G>T
ENST00000547757.2:c.78G>T	ENSP00000448020.2:p.Leu26=
ENST00000548880.2:n.1479G>T
ENST00000548931.6:c.549G>T	ENSP00000457518.1:p.Leu183=
ENST00000549450.6:n.963G>T
ENST00000552161.6:n.1985G>T
ENST00000672797.1:n.1518G>T
ENST00000672900.1:n.1971G>T
ENST00000209873.8:c.1029G>T	ENSP00000209873.4:p.Leu343=
ENST00000394384.7:c.930G>T	ENSP00000377908.3:p.Leu310=
ENST00000547520.5:n.733G>T
ENST00000548931.5:c.549G>T	ENSP00000457518.1:p.Leu183=
ENST00000550033.5:n.284G>T
ENST00000550286.5:c.657G>T	ENSP00000446885.1:p.Leu219=
ENST00000552876.5:n.1372G>T
NM_001173466.1:c.930G>T	NP_001166937.1:p.Leu310=
NM_015665.5:c.1029G>T	NP_056480.1:p.Leu343=
XM_006719617.2:c.1044G>T	XP_006719680.1:p.Leu348=
XM_006719619.2:c.*39G>T	XP_006719682.1:n.*39G>T
XM_011538777.1:c.1044G>T	XP_011537079.1:p.Leu348=
XM_011538778.1:c.1029G>T	XP_011537080.1:p.Leu343=
XM_011538779.1:c.945G>T	XP_011537081.1:p.Leu315=
XM_011538780.1:c.930G>T	XP_011537082.1:p.Leu310=
XM_011538781.1:c.378G>T	XP_011537083.1:p.Leu126=
XM_011538778.2:c.1029G>T	XP_011537080.1:p.Leu343=
XM_011538780.2:c.930G>T	XP_011537082.1:p.Leu310=
XR_001748875.2:n.1086G>T
NM_015665.6:c.1029G>T MANE Select	NP_056480.1:p.Leu343=
NM_001173466.2:c.930G>T	NP_001166937.1:p.Leu310=