Canonical Allele Identifier: CA2275552704
Gene: TSEN54 HGNC NCBI

Linked Data

dbSNP Id: rs2053482809

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75524588C>G , CM000679.2:g.75524588C>G GRCh38
NC_000017.10:g.73520669C>G , CM000679.1:g.73520669C>G GRCh37
NC_000017.9:g.71032264C>G NCBI36
NG_013041.1:g.13061C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000333213.11:c.*176C>G MANE Select ENSP00000327487.6:n.*176C>G
ENST00000434205.8:c.*176C>G ENSP00000406559.4:n.*176C>G
ENST00000545228.3:c.*256C>G ENSP00000438169.3:n.*256C>G
ENST00000577197.2:n.955C>G
ENST00000579449.2:n.2497C>G
ENST00000580013.6:n.2901C>G
ENST00000679370.1:n.3279C>G
ENST00000679429.1:c.*1215C>G ENSP00000505403.1:n.*1215C>G
ENST00000679443.1:n.1826C>G
ENST00000679782.1:c.*456C>G ENSP00000505995.1:n.*456C>G
ENST00000679919.1:n.2028C>G
ENST00000679928.1:c.*2309C>G ENSP00000506071.1:n.*2309C>G
ENST00000680999.1:c.*176C>G ENSP00000504984.1:n.*176C>G
ENST00000681282.1:c.*1944C>G ENSP00000506339.1:n.*1944C>G
ENST00000333213.10:c.*176C>G ENSP00000327487.6:n.*176C>G
ENST00000545228.2:c.1034C>G
ENST00000577197.1:n.505C>G
NM_207346.2:c.*176C>G NP_997229.2:n.*176C>G
XM_005257229.2:c.*256C>G XP_005257286.1:n.*256C>G
XM_006721821.2:c.*256C>G XP_006721884.1:n.*256C>G
XM_011524616.1:c.*256C>G XP_011522918.1:n.*256C>G
XM_011524618.1:c.*176C>G XP_011522920.1:n.*176C>G
XR_243646.2:n.1989C>G
XM_005257229.4:c.*256C>G XP_005257286.1:n.*256C>G
XR_243646.4:n.1995C>G
NM_207346.3:c.*176C>G MANE Select NP_997229.2:n.*176C>G