Canonical Allele Identifier: CA412905018

Gene: TFE3

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49033471C>T , CM000685.2:g.49033471C>T	GRCh38
NC_000023.10:g.48890986C>T , CM000685.1:g.48890986C>T	GRCh37
NC_000023.9:g.48777930C>T	NCBI36
NG_016297.2:g.14990G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315869.8:c.1130G>A MANE Select	ENSP00000314129.7:p.Ser377Asn
ENST00000315869.7:c.1130G>A	ENSP00000314129.7:p.Ser377Asn
ENST00000487451.1:n.904G>A
ENST00000493583.5:c.*735G>A	ENSP00000476976.1:n.*735G>A
NM_001282142.1:c.815G>A	NP_001269071.1:p.Ser272Asn
NM_006521.5:c.1130G>A	NP_006512.2:p.Ser377Asn
XM_006724549.2:c.815G>A	XP_006724612.1:p.Ser272Asn
XM_011543952.1:c.1130G>A	XP_011542254.1:p.Ser377Asn
XM_024452432.1:c.1130G>A	XP_024308200.1:p.Ser377Asn
NM_006521.6:c.1130G>A MANE Select	NP_006512.2:p.Ser377Asn
NM_001282142.2:c.815G>A	NP_001269071.1:p.Ser272Asn