Canonical Allele Identifier: CA412903119

Gene: TFE3

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49030532T>C , CM000685.2:g.49030532T>C	GRCh38
NC_000023.10:g.48888043T>C , CM000685.1:g.48888043T>C	GRCh37
NG_016297.2:g.17929A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006521.6:c.1354A>G MANE Select	NP_006512.2:p.Thr452Ala
ENST00000315869.8:c.1354A>G MANE Select	ENSP00000314129.7:p.Thr452Ala
NM_001282142.1:c.1039A>G	NP_001269071.1:p.Thr347Ala
NM_001282142.2:c.1039A>G	NP_001269071.1:p.Thr347Ala
NM_006521.5:c.1354A>G	NP_006512.2:p.Thr452Ala
ENST00000315869.7:c.1354A>G	ENSP00000314129.7:p.Thr452Ala
ENST00000493583.5:c.*959A>G	ENSP00000476976.1:n.*959A>G
ENST00000495940.2:n.741A>G
XM_006724549.2:c.1039A>G	XP_006724612.1:p.Thr347Ala
XM_011543952.1:c.1400A>G	XP_011542254.1:p.His467Arg
XM_024452432.1:c.1400A>G	XP_024308200.1:p.His467Arg