Canonical Allele Identifier: CA412900924

Gene: TFE3

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49030187T>G , CM000685.2:g.49030187T>G	GRCh38
NC_000023.10:g.48887698T>G , CM000685.1:g.48887698T>G	GRCh37
NG_016297.2:g.18274A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006521.6:c.1699A>C MANE Select	NP_006512.2:p.Ser567Arg
ENST00000315869.8:c.1699A>C MANE Select	ENSP00000314129.7:p.Ser567Arg
NM_001282142.1:c.1384A>C	NP_001269071.1:p.Ser462Arg
NM_001282142.2:c.1384A>C	NP_001269071.1:p.Ser462Arg
NM_006521.5:c.1699A>C	NP_006512.2:p.Ser567Arg
ENST00000315869.7:c.1699A>C	ENSP00000314129.7:p.Ser567Arg
ENST00000493583.5:c.*1304A>C	ENSP00000476976.1:n.*1304A>C
XM_006724549.2:c.1384A>C	XP_006724612.1:p.Ser462Arg
XM_011543952.1:c.*329A>C	XP_011542254.1:n.*329A>C
XM_024452432.1:c.*329A>C	XP_024308200.1:n.*329A>C