Canonical Allele Identifier: CA8764318
Gene: TSEN54 HGNC NCBI

Linked Data

ClinVar Variation Id: 1434737
dbSNP Id: rs769945102

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75522070G>A , CM000679.2:g.75522070G>A GRCh38
NC_000017.10:g.73518151G>A , CM000679.1:g.73518151G>A GRCh37
NC_000017.9:g.71029746G>A NCBI36
NG_013041.1:g.10543G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000333213.11:c.989G>A MANE Select ENSP00000327487.6:p.Arg330Gln
ENST00000434205.8:c.686G>A ENSP00000406559.4:p.Arg229Gln
ENST00000545228.3:c.989G>A ENSP00000438169.3:p.Arg330Gln
ENST00000579449.2:n.788G>A
ENST00000580013.6:n.1192G>A
ENST00000679370.1:n.1570G>A
ENST00000679429.1:c.*447G>A ENSP00000505403.1:n.*447G>A
ENST00000679443.1:n.1058G>A
ENST00000679782.1:c.989G>A ENSP00000505995.1:p.Arg330Gln
ENST00000679919.1:n.1058G>A
ENST00000679928.1:c.*600G>A ENSP00000506071.1:n.*600G>A
ENST00000680528.1:n.1014G>A
ENST00000680999.1:c.989G>A ENSP00000504984.1:p.Arg330Gln
ENST00000681282.1:c.*235G>A ENSP00000506339.1:n.*235G>A
ENST00000333213.10:c.989G>A ENSP00000327487.6:p.Arg330Gln
ENST00000545228.2:c.78G>A
ENST00000578415.1:c.949G>A
ENST00000583173.5:c.522G>A ENSP00000463619.1:p.Ala174=
NM_207346.2:c.989G>A NP_997229.2:p.Arg330Gln
XM_005257229.2:c.989G>A XP_005257286.1:p.Arg330Gln
XM_006721821.2:c.686G>A XP_006721884.1:p.Arg229Gln
XM_011524616.1:c.989G>A XP_011522918.1:p.Arg330Gln
XM_011524617.1:c.989G>A XP_011522919.1:p.Arg330Gln
XM_011524618.1:c.989G>A XP_011522920.1:p.Arg330Gln
XR_243646.2:n.1019G>A
XM_005257229.4:c.989G>A XP_005257286.1:p.Arg330Gln
XR_243646.4:n.1025G>A
NM_207346.3:c.989G>A MANE Select NP_997229.2:p.Arg330Gln