Canonical Allele Identifier: CA339944
Gene: TSEN54 HGNC NCBI

Linked Data

ClinVar Variation Id: 2122
dbSNP Id: rs113994153

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75521817C>T , CM000679.2:g.75521817C>T GRCh38
NC_000017.10:g.73517898C>T , CM000679.1:g.73517898C>T GRCh37
NC_000017.9:g.71029493C>T NCBI36
NG_013041.1:g.10290C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000333213.11:c.736C>T MANE Select ENSP00000327487.6:p.Gln246Ter
ENST00000434205.8:c.433C>T ENSP00000406559.4:p.Gln145Ter
ENST00000545228.3:c.736C>T ENSP00000438169.3:p.Gln246Ter
ENST00000579449.2:n.535C>T
ENST00000580013.6:n.939C>T
ENST00000583818.2:c.790C>T ENSP00000461928.2:n.790C>T
ENST00000679370.1:n.1317C>T
ENST00000679429.1:c.*194C>T ENSP00000505403.1:n.*194C>T
ENST00000679443.1:n.805C>T
ENST00000679782.1:c.736C>T ENSP00000505995.1:p.Gln246Ter
ENST00000679919.1:n.805C>T
ENST00000679928.1:c.*347C>T ENSP00000506071.1:n.*347C>T
ENST00000680528.1:n.761C>T
ENST00000680999.1:c.736C>T ENSP00000504984.1:p.Gln246Ter
ENST00000681282.1:c.765C>T ENSP00000506339.1:p.Pro255=
ENST00000333213.10:c.736C>T ENSP00000327487.6:p.Gln246Ter
ENST00000578415.1:c.696C>T
ENST00000583173.5:c.459-190C>T ENSP00000463619.1:n.459-190C>T
ENST00000583818.1:c.685C>T ENSP00000461928.1:n.685C>T
NM_207346.2:c.736C>T NP_997229.2:p.Gln246Ter
XM_005257229.2:c.736C>T XP_005257286.1:p.Gln246Ter
XM_006721821.2:c.433C>T XP_006721884.1:p.Gln145Ter
XM_011524616.1:c.736C>T XP_011522918.1:p.Gln246Ter
XM_011524617.1:c.736C>T XP_011522919.1:p.Gln246Ter
XM_011524618.1:c.736C>T XP_011522920.1:p.Gln246Ter
XR_243646.2:n.766C>T
XM_005257229.4:c.736C>T XP_005257286.1:p.Gln246Ter
XR_243646.4:n.772C>T
NM_207346.3:c.736C>T MANE Select NP_997229.2:p.Gln246Ter