Canonical Allele Identifier: CA401027892
Gene: TSEN54 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75519026T>C , CM000679.2:g.75519026T>C GRCh38
NC_000017.10:g.73515107T>C , CM000679.1:g.73515107T>C GRCh37
NC_000017.9:g.71026702T>C NCBI36
NG_013041.1:g.7499T>C
NG_033152.1:g.1558A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000333213.11:c.500T>C MANE Select ENSP00000327487.6:p.Val167Ala
ENST00000434205.8:c.197T>C ENSP00000406559.4:p.Val66Ala
ENST00000545228.3:c.500T>C ENSP00000438169.3:p.Val167Ala
ENST00000579449.2:n.299T>C
ENST00000580013.6:n.509T>C
ENST00000583818.2:c.500T>C ENSP00000461928.2:p.Val167Ala
ENST00000679370.1:n.887T>C
ENST00000679429.1:c.492T>C ENSP00000505403.1:p.Cys164=
ENST00000679443.1:n.375T>C
ENST00000679782.1:c.500T>C ENSP00000505995.1:p.Val167Ala
ENST00000679919.1:n.375T>C
ENST00000679928.1:c.500T>C ENSP00000506071.1:p.Val167Ala
ENST00000680528.1:n.525T>C
ENST00000680999.1:c.500T>C ENSP00000504984.1:p.Val167Ala
ENST00000681282.1:c.500T>C ENSP00000506339.1:p.Val167Ala
ENST00000333213.10:c.500T>C ENSP00000327487.6:p.Val167Ala
ENST00000434205.7:c.197T>C ENSP00000406559.3:p.Val66Ala
ENST00000578415.1:c.460T>C
ENST00000580013.5:n.517T>C
ENST00000583173.5:c.335T>C ENSP00000463619.1:p.Val112Ala
ENST00000583818.1:c.395T>C ENSP00000461928.1:p.Val132Ala
NM_207346.2:c.500T>C NP_997229.2:p.Val167Ala
XM_005257229.2:c.500T>C XP_005257286.1:p.Val167Ala
XM_006721821.2:c.197T>C XP_006721884.1:p.Val66Ala
XM_011524616.1:c.500T>C XP_011522918.1:p.Val167Ala
XM_011524617.1:c.500T>C XP_011522919.1:p.Val167Ala
XM_011524618.1:c.500T>C XP_011522920.1:p.Val167Ala
XR_243646.2:n.530T>C
XM_005257229.4:c.500T>C XP_005257286.1:p.Val167Ala
XR_243646.4:n.536T>C
NM_207346.3:c.500T>C MANE Select NP_997229.2:p.Val167Ala