Canonical Allele Identifier: CA8763971
Gene: TSEN54 HGNC NCBI

Linked Data

dbSNP Id: rs776923151

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75516815C>G , CM000679.2:g.75516815C>G GRCh38
NC_000017.10:g.73512896C>G , CM000679.1:g.73512896C>G GRCh37
NC_000017.9:g.71024491C>G NCBI36
NG_013041.1:g.5288C>G
NG_033152.1:g.3769G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000333213.11:c.126C>G MANE Select ENSP00000327487.6:p.Asp42Glu
ENST00000434205.8:c.-82-194C>G ENSP00000406559.4:n.-82-194C>G
ENST00000545228.3:c.126C>G ENSP00000438169.3:p.Asp42Glu
ENST00000579449.2:n.21-194C>G
ENST00000580013.6:n.135C>G
ENST00000583818.2:c.126C>G ENSP00000461928.2:p.Asp42Glu
ENST00000679370.1:n.513C>G
ENST00000679429.1:c.126C>G ENSP00000505403.1:p.Asp42Glu
ENST00000679443.1:n.1C>G
ENST00000679782.1:c.126C>G ENSP00000505995.1:p.Asp42Glu
ENST00000679919.1:n.1C>G
ENST00000679928.1:c.126C>G ENSP00000506071.1:p.Asp42Glu
ENST00000680528.1:n.151C>G
ENST00000680999.1:c.126C>G ENSP00000504984.1:p.Asp42Glu
ENST00000681282.1:c.126C>G ENSP00000506339.1:p.Asp42Glu
ENST00000333213.10:c.126C>G ENSP00000327487.6:p.Asp42Glu
ENST00000434205.7:c.-82-194C>G ENSP00000406559.3:n.-82-194C>G
ENST00000578415.1:c.4C>G
ENST00000580013.5:n.151C>G
ENST00000583173.5:c.57-194C>G ENSP00000463619.1:n.57-194C>G
ENST00000583454.1:n.161C>G
ENST00000583818.1:c.21C>G ENSP00000461928.1:p.Asp7Glu
NM_207346.2:c.126C>G NP_997229.2:p.Asp42Glu
XM_005257229.2:c.126C>G XP_005257286.1:p.Asp42Glu
XM_006721821.2:c.-178C>G XP_006721884.1:n.-178C>G
XM_011524616.1:c.126C>G XP_011522918.1:p.Asp42Glu
XM_011524617.1:c.126C>G XP_011522919.1:p.Asp42Glu
XM_011524618.1:c.126C>G XP_011522920.1:p.Asp42Glu
XR_243646.2:n.156C>G
XM_005257229.4:c.126C>G XP_005257286.1:p.Asp42Glu
XR_243646.4:n.162C>G
NM_207346.3:c.126C>G MANE Select NP_997229.2:p.Asp42Glu