Canonical Allele Identifier: CA412913702
Gene: TFE3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49039373C>T , CM000685.2:g.49039373C>T GRCh38
NC_000023.10:g.48896898C>T , CM000685.1:g.48896898C>T GRCh37
NC_000023.9:g.48783842C>T NCBI36
NG_016297.2:g.9088G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000315869.8:c.268G>A MANE Select ENSP00000314129.7:p.Ala90Thr
ENST00000315869.7:c.268G>A ENSP00000314129.7:p.Ala90Thr
ENST00000487451.1:n.70-28G>A
ENST00000493583.5:c.231-28G>A ENSP00000476976.1:n.231-28G>A
NM_001282142.1:c.-20-28G>A NP_001269071.1:n.-20-28G>A
NM_006521.5:c.268G>A NP_006512.2:p.Ala90Thr
XM_006724549.2:c.-48G>A XP_006724612.1:n.-48G>A
XM_011543952.1:c.268G>A XP_011542254.1:p.Ala90Thr
XM_024452432.1:c.268G>A XP_024308200.1:p.Ala90Thr
NM_006521.6:c.268G>A MANE Select NP_006512.2:p.Ala90Thr
NM_001282142.2:c.-20-28G>A NP_001269071.1:n.-20-28G>A