Canonical Allele Identifier: CA385040582

Gene: AAAS

Linked Data

• gnomAD v4: 12-53308779-A-G
• MyVariant Identifiers: chr12:g.53702563A>G (hg19) ; chr12:g.53308779A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308779A>G , CM000674.2:g.53308779A>G	GRCh38
NC_000012.11:g.53702563A>G , CM000674.1:g.53702563A>G	GRCh37
NC_000012.10:g.51988830A>G	NCBI36
NG_016775.1:g.17850T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1033T>C MANE Select	ENSP00000209873.4:p.Phe345Leu
ENST00000546393.7:n.1878T>C
ENST00000546562.6:n.2097T>C
ENST00000547238.6:n.1669T>C
ENST00000547520.6:n.1027T>C
ENST00000547757.2:c.82T>C	ENSP00000448020.2:p.Phe28Leu
ENST00000548880.2:n.1483T>C
ENST00000548931.6:c.553T>C	ENSP00000457518.1:p.Phe185Leu
ENST00000549450.6:n.967T>C
ENST00000552161.6:n.1989T>C
ENST00000672797.1:n.1522T>C
ENST00000672900.1:n.1975T>C
ENST00000209873.8:c.1033T>C	ENSP00000209873.4:p.Phe345Leu
ENST00000394384.7:c.934T>C	ENSP00000377908.3:p.Phe312Leu
ENST00000547520.5:n.737T>C
ENST00000548931.5:c.553T>C	ENSP00000457518.1:p.Phe185Leu
ENST00000550033.5:n.288T>C
ENST00000550286.5:c.661T>C	ENSP00000446885.1:p.Phe221Leu
ENST00000552876.5:n.1376T>C
NM_001173466.1:c.934T>C	NP_001166937.1:p.Phe312Leu
NM_015665.5:c.1033T>C	NP_056480.1:p.Phe345Leu
XM_006719617.2:c.1048T>C	XP_006719680.1:p.Phe350Leu
XM_006719619.2:c.*43T>C	XP_006719682.1:n.*43T>C
XM_011538777.1:c.1048T>C	XP_011537079.1:p.Phe350Leu
XM_011538778.1:c.1033T>C	XP_011537080.1:p.Phe345Leu
XM_011538779.1:c.949T>C	XP_011537081.1:p.Phe317Leu
XM_011538780.1:c.934T>C	XP_011537082.1:p.Phe312Leu
XM_011538781.1:c.382T>C	XP_011537083.1:p.Phe128Leu
XM_011538778.2:c.1033T>C	XP_011537080.1:p.Phe345Leu
XM_011538780.2:c.934T>C	XP_011537082.1:p.Phe312Leu
XR_001748875.2:n.1090T>C
NM_015665.6:c.1033T>C MANE Select	NP_056480.1:p.Phe345Leu
NM_001173466.2:c.934T>C	NP_001166937.1:p.Phe312Leu