Canonical Allele Identifier: CA173740
Gene: TSEN54 HGNC NCBI

Linked Data

ClinVar Variation Id: 2120
dbSNP Id: rs113994152

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75522000G>T , CM000679.2:g.75522000G>T GRCh38
NC_000017.10:g.73518081G>T , CM000679.1:g.73518081G>T GRCh37
NC_000017.9:g.71029676G>T NCBI36
NG_013041.1:g.10473G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000333213.11:c.919G>T MANE Select ENSP00000327487.6:p.Ala307Ser
ENST00000434205.8:c.616G>T ENSP00000406559.4:p.Ala206Ser
ENST00000545228.3:c.919G>T ENSP00000438169.3:p.Ala307Ser
ENST00000579449.2:n.718G>T
ENST00000580013.6:n.1122G>T
ENST00000679370.1:n.1500G>T
ENST00000679429.1:c.*377G>T ENSP00000505403.1:n.*377G>T
ENST00000679443.1:n.988G>T
ENST00000679782.1:c.919G>T ENSP00000505995.1:p.Ala307Ser
ENST00000679919.1:n.988G>T
ENST00000679928.1:c.*530G>T ENSP00000506071.1:n.*530G>T
ENST00000680528.1:n.944G>T
ENST00000680999.1:c.919G>T ENSP00000504984.1:p.Ala307Ser
ENST00000681282.1:c.*165G>T ENSP00000506339.1:n.*165G>T
ENST00000333213.10:c.919G>T ENSP00000327487.6:p.Ala307Ser
ENST00000545228.2:c.8G>T
ENST00000578415.1:c.879G>T
ENST00000583173.5:c.459-7G>T ENSP00000463619.1:n.459-7G>T
NM_207346.2:c.919G>T NP_997229.2:p.Ala307Ser
XM_005257229.2:c.919G>T XP_005257286.1:p.Ala307Ser
XM_006721821.2:c.616G>T XP_006721884.1:p.Ala206Ser
XM_011524616.1:c.919G>T XP_011522918.1:p.Ala307Ser
XM_011524617.1:c.919G>T XP_011522919.1:p.Ala307Ser
XM_011524618.1:c.919G>T XP_011522920.1:p.Ala307Ser
XR_243646.2:n.949G>T
XM_005257229.4:c.919G>T XP_005257286.1:p.Ala307Ser
XR_243646.4:n.955G>T
NM_207346.3:c.919G>T MANE Select NP_997229.2:p.Ala307Ser