Canonical Allele Identifier: CA412913114

Gene: TFE3

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49039292G>A , CM000685.2:g.49039292G>A	GRCh38
NC_000023.10:g.48896817G>A , CM000685.1:g.48896817G>A	GRCh37
NC_000023.9:g.48783761G>A	NCBI36
NG_016297.2:g.9169C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315869.8:c.349C>T MANE Select	ENSP00000314129.7:p.Arg117Trp
ENST00000315869.7:c.349C>T	ENSP00000314129.7:p.Arg117Trp
ENST00000487451.1:n.123C>T
ENST00000493583.5:c.284C>T	ENSP00000476976.1:p.Ala95Val
NM_001282142.1:c.34C>T	NP_001269071.1:p.Arg12Trp
NM_006521.5:c.349C>T	NP_006512.2:p.Arg117Trp
XM_006724549.2:c.34C>T	XP_006724612.1:p.Arg12Trp
XM_011543952.1:c.349C>T	XP_011542254.1:p.Arg117Trp
XM_024452432.1:c.349C>T	XP_024308200.1:p.Arg117Trp
NM_006521.6:c.349C>T MANE Select	NP_006512.2:p.Arg117Trp
NM_001282142.2:c.34C>T	NP_001269071.1:p.Arg12Trp