Canonical Allele Identifier: CA412900905

Gene: TFE3

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49030185G>T , CM000685.2:g.49030185G>T	GRCh38
NC_000023.10:g.48887696G>T , CM000685.1:g.48887696G>T	GRCh37
NG_016297.2:g.18276C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006521.6:c.1701C>A MANE Select	NP_006512.2:p.Ser567Arg
ENST00000315869.8:c.1701C>A MANE Select	ENSP00000314129.7:p.Ser567Arg
NM_001282142.1:c.1386C>A	NP_001269071.1:p.Ser462Arg
NM_001282142.2:c.1386C>A	NP_001269071.1:p.Ser462Arg
NM_006521.5:c.1701C>A	NP_006512.2:p.Ser567Arg
ENST00000315869.7:c.1701C>A	ENSP00000314129.7:p.Ser567Arg
ENST00000493583.5:c.*1306C>A	ENSP00000476976.1:n.*1306C>A
XM_006724549.2:c.1386C>A	XP_006724612.1:p.Ser462Arg
XM_011543952.1:c.*331C>A	XP_011542254.1:n.*331C>A
XM_024452432.1:c.*331C>A	XP_024308200.1:n.*331C>A