Canonical Allele Identifier: CA412909196

Gene: TFE3

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49038243T>C , CM000685.2:g.49038243T>C	GRCh38
NC_000023.10:g.48895768T>C , CM000685.1:g.48895768T>C	GRCh37
NC_000023.9:g.48782712T>C	NCBI36
NG_016297.2:g.10218A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006521.6:c.734A>G MANE Select	NP_006512.2:p.Asn245Ser
ENST00000315869.8:c.734A>G MANE Select	ENSP00000314129.7:p.Asn245Ser
NM_001282142.1:c.419A>G	NP_001269071.1:p.Asn140Ser
NM_001282142.2:c.419A>G	NP_001269071.1:p.Asn140Ser
NM_006521.5:c.734A>G	NP_006512.2:p.Asn245Ser
ENST00000315869.7:c.734A>G	ENSP00000314129.7:p.Asn245Ser
ENST00000481606.1:n.17A>G
ENST00000487451.1:n.508A>G
ENST00000493583.5:c.*339A>G	ENSP00000476976.1:n.*339A>G
XM_006724549.2:c.419A>G	XP_006724612.1:p.Asn140Ser
XM_011543952.1:c.734A>G	XP_011542254.1:p.Asn245Ser
XM_024452432.1:c.734A>G	XP_024308200.1:p.Asn245Ser