Canonical Allele Identifier: CA385041598

Gene: AAAS

Linked Data

• gnomAD v4: 12-53309159-A-C
• MyVariant Identifiers: chr12:g.53702943A>C (hg19) ; chr12:g.53309159A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309159A>C , CM000674.2:g.53309159A>C	GRCh38
NC_000012.11:g.53702943A>C , CM000674.1:g.53702943A>C	GRCh37
NC_000012.10:g.51989210A>C	NCBI36
NG_016775.1:g.17470T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.933T>G MANE Select	ENSP00000209873.4:p.Phe311Leu
ENST00000546393.7:n.1778T>G
ENST00000546562.6:n.1997T>G
ENST00000547238.6:n.1569T>G
ENST00000547520.6:n.927T>G
ENST00000547757.2:c.-19T>G	ENSP00000448020.2:n.-19T>G
ENST00000548880.2:n.1383T>G
ENST00000548931.6:c.453T>G	ENSP00000457518.1:p.Phe151Leu
ENST00000549450.6:n.867T>G
ENST00000552161.6:n.1889T>G
ENST00000672797.1:n.1386T>G
ENST00000672900.1:n.1731T>G
ENST00000209873.8:c.933T>G	ENSP00000209873.4:p.Phe311Leu
ENST00000394384.7:c.834T>G	ENSP00000377908.3:p.Phe278Leu
ENST00000546393.6:n.830T>G
ENST00000546572.1:n.385T>G
ENST00000547520.5:n.637T>G
ENST00000547761.6:n.825T>G
ENST00000548931.5:c.453T>G	ENSP00000457518.1:p.Phe151Leu
ENST00000550033.5:n.188T>G
ENST00000550286.5:c.561T>G	ENSP00000446885.1:p.Phe187Leu
ENST00000552876.5:n.1276T>G
NM_001173466.1:c.834T>G	NP_001166937.1:p.Phe278Leu
NM_015665.5:c.933T>G	NP_056480.1:p.Phe311Leu
XM_006719617.2:c.948T>G	XP_006719680.1:p.Phe316Leu
XM_006719619.2:c.948T>G	XP_006719682.1:p.Phe316Leu
XM_011538777.1:c.948T>G	XP_011537079.1:p.Phe316Leu
XM_011538778.1:c.933T>G	XP_011537080.1:p.Phe311Leu
XM_011538779.1:c.849T>G	XP_011537081.1:p.Phe283Leu
XM_011538780.1:c.834T>G	XP_011537082.1:p.Phe278Leu
XM_011538781.1:c.282T>G	XP_011537083.1:p.Phe94Leu
XM_011538778.2:c.933T>G	XP_011537080.1:p.Phe311Leu
XM_011538780.2:c.834T>G	XP_011537082.1:p.Phe278Leu
XR_001748875.2:n.954T>G
NM_015665.6:c.933T>G MANE Select	NP_056480.1:p.Phe311Leu
NM_001173466.2:c.834T>G	NP_001166937.1:p.Phe278Leu