Canonical Allele Identifier: CA385040625

Gene: AAAS

Linked Data

• gnomAD v4: 12-53308787-C-A
• MyVariant Identifiers: chr12:g.53702571C>A (hg19) ; chr12:g.53308787C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308787C>A , CM000674.2:g.53308787C>A	GRCh38
NC_000012.11:g.53702571C>A , CM000674.1:g.53702571C>A	GRCh37
NC_000012.10:g.51988838C>A	NCBI36
NG_016775.1:g.17842G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1025G>T MANE Select	ENSP00000209873.4:p.Arg342Leu
ENST00000546393.7:n.1870G>T
ENST00000546562.6:n.2089G>T
ENST00000547238.6:n.1661G>T
ENST00000547520.6:n.1019G>T
ENST00000547757.2:c.74G>T	ENSP00000448020.2:p.Arg25Leu
ENST00000548880.2:n.1475G>T
ENST00000548931.6:c.545G>T	ENSP00000457518.1:p.Arg182Leu
ENST00000549450.6:n.959G>T
ENST00000552161.6:n.1981G>T
ENST00000672797.1:n.1514G>T
ENST00000672900.1:n.1967G>T
ENST00000209873.8:c.1025G>T	ENSP00000209873.4:p.Arg342Leu
ENST00000394384.7:c.926G>T	ENSP00000377908.3:p.Arg309Leu
ENST00000547520.5:n.729G>T
ENST00000548931.5:c.545G>T	ENSP00000457518.1:p.Arg182Leu
ENST00000550033.5:n.280G>T
ENST00000550286.5:c.653G>T	ENSP00000446885.1:p.Arg218Leu
ENST00000552876.5:n.1368G>T
NM_001173466.1:c.926G>T	NP_001166937.1:p.Arg309Leu
NM_015665.5:c.1025G>T	NP_056480.1:p.Arg342Leu
XM_006719617.2:c.1040G>T	XP_006719680.1:p.Arg347Leu
XM_006719619.2:c.*35G>T	XP_006719682.1:n.*35G>T
XM_011538777.1:c.1040G>T	XP_011537079.1:p.Arg347Leu
XM_011538778.1:c.1025G>T	XP_011537080.1:p.Arg342Leu
XM_011538779.1:c.941G>T	XP_011537081.1:p.Arg314Leu
XM_011538780.1:c.926G>T	XP_011537082.1:p.Arg309Leu
XM_011538781.1:c.374G>T	XP_011537083.1:p.Arg125Leu
XM_011538778.2:c.1025G>T	XP_011537080.1:p.Arg342Leu
XM_011538780.2:c.926G>T	XP_011537082.1:p.Arg309Leu
XR_001748875.2:n.1082G>T
NM_015665.6:c.1025G>T MANE Select	NP_056480.1:p.Arg342Leu
NM_001173466.2:c.926G>T	NP_001166937.1:p.Arg309Leu