Canonical Allele Identifier: CA401029422

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521988T>C , CM000679.2:g.75521988T>C	GRCh38
NC_000017.10:g.73518069T>C , CM000679.1:g.73518069T>C	GRCh37
NC_000017.9:g.71029664T>C	NCBI36
NG_013041.1:g.10461T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_207346.3:c.907T>C MANE Select	NP_997229.2:p.Phe303Leu
ENST00000333213.11:c.907T>C MANE Select	ENSP00000327487.6:p.Phe303Leu
NM_207346.2:c.907T>C	NP_997229.2:p.Phe303Leu
ENST00000333213.10:c.907T>C	ENSP00000327487.6:p.Phe303Leu
ENST00000434205.8:c.604T>C	ENSP00000406559.4:p.Phe202Leu
ENST00000545228.3:c.907T>C	ENSP00000438169.3:p.Phe303Leu
ENST00000578415.1:c.867T>C
ENST00000579449.2:n.706T>C
ENST00000580013.6:n.1110T>C
ENST00000583173.5:c.459-19T>C	ENSP00000463619.1:n.459-19T>C
ENST00000679370.1:n.1488T>C
ENST00000679429.1:c.*365T>C	ENSP00000505403.1:n.*365T>C
ENST00000679443.1:n.976T>C
ENST00000679782.1:c.907T>C	ENSP00000505995.1:p.Phe303Leu
ENST00000679919.1:n.976T>C
ENST00000679928.1:c.*518T>C	ENSP00000506071.1:n.*518T>C
ENST00000680528.1:n.932T>C
ENST00000680999.1:c.907T>C	ENSP00000504984.1:p.Phe303Leu
ENST00000681282.1:c.*153T>C	ENSP00000506339.1:n.*153T>C
XM_005257229.2:c.907T>C	XP_005257286.1:p.Phe303Leu
XM_005257229.4:c.907T>C	XP_005257286.1:p.Phe303Leu
XM_006721821.2:c.604T>C	XP_006721884.1:p.Phe202Leu
XM_011524616.1:c.907T>C	XP_011522918.1:p.Phe303Leu
XM_011524617.1:c.907T>C	XP_011522919.1:p.Phe303Leu
XM_011524618.1:c.907T>C	XP_011522920.1:p.Phe303Leu
XR_243646.2:n.937T>C
XR_243646.4:n.943T>C