Canonical Allele Identifier: CA502045505
Gene: TSEN54 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.73512872C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75516791C>T , CM000679.2:g.75516791C>T GRCh38
NC_000017.10:g.73512872C>T , CM000679.1:g.73512872C>T GRCh37
NC_000017.9:g.71024467C>T NCBI36
NG_013041.1:g.5264C>T
NG_033152.1:g.3793G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000333213.11:c.102C>T MANE Select ENSP00000327487.6:p.Pro34=
ENST00000434205.8:c.-82-218C>T ENSP00000406559.4:n.-82-218C>T
ENST00000545228.3:c.102C>T ENSP00000438169.3:p.Pro34=
ENST00000579449.2:n.20+175C>T
ENST00000580013.6:n.111C>T
ENST00000583818.2:c.102C>T ENSP00000461928.2:p.Pro34=
ENST00000679370.1:n.489C>T
ENST00000679429.1:c.102C>T ENSP00000505403.1:p.Pro34=
ENST00000679782.1:c.102C>T ENSP00000505995.1:p.Pro34=
ENST00000679928.1:c.102C>T ENSP00000506071.1:p.Pro34=
ENST00000680528.1:n.127C>T
ENST00000680999.1:c.102C>T ENSP00000504984.1:p.Pro34=
ENST00000681282.1:c.102C>T ENSP00000506339.1:p.Pro34=
ENST00000333213.10:c.102C>T ENSP00000327487.6:p.Pro34=
ENST00000434205.7:c.-82-218C>T ENSP00000406559.3:n.-82-218C>T
ENST00000580013.5:n.127C>T
ENST00000583173.5:c.56+175C>T ENSP00000463619.1:n.56+175C>T
ENST00000583454.1:n.137C>T
NM_207346.2:c.102C>T NP_997229.2:p.Pro34=
XM_005257229.2:c.102C>T XP_005257286.1:p.Pro34=
XM_006721821.2:c.-202C>T XP_006721884.1:n.-202C>T
XM_011524616.1:c.102C>T XP_011522918.1:p.Pro34=
XM_011524617.1:c.102C>T XP_011522919.1:p.Pro34=
XM_011524618.1:c.102C>T XP_011522920.1:p.Pro34=
XR_243646.2:n.132C>T
XM_005257229.4:c.102C>T XP_005257286.1:p.Pro34=
XR_243646.4:n.138C>T
NM_207346.3:c.102C>T MANE Select NP_997229.2:p.Pro34=