Canonical Allele Identifier: CA2275548351

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516612C= , CM000679.2:g.75516612C=	GRCh38
NC_000017.10:g.73512693C= , CM000679.1:g.73512693C=	GRCh37
NC_000017.9:g.71024288C=	NCBI36
NG_013041.1:g.5085C=
NG_033152.1:g.3972G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.52C= MANE Select	ENSP00000327487.6:p.Leu18=
ENST00000434205.8:c.-83+226C=	ENSP00000406559.4:n.-83+226C=
ENST00000545228.3:c.52C=	ENSP00000438169.3:p.Leu18=
ENST00000579449.2:n.16C=
ENST00000580013.6:n.61C=
ENST00000583818.2:c.52C=	ENSP00000461928.2:p.Leu18=
ENST00000679370.1:n.444-134C=
ENST00000679429.1:c.52C=	ENSP00000505403.1:p.Leu18=
ENST00000679782.1:c.52C=	ENSP00000505995.1:p.Leu18=
ENST00000679928.1:c.52C=	ENSP00000506071.1:p.Leu18=
ENST00000680528.1:n.77C=
ENST00000680999.1:c.52C=	ENSP00000504984.1:p.Leu18=
ENST00000681282.1:c.52C=	ENSP00000506339.1:p.Leu18=
ENST00000333213.10:c.52C=	ENSP00000327487.6:p.Leu18=
ENST00000434205.7:c.-83+226C=	ENSP00000406559.3:n.-83+226C=
ENST00000580013.5:n.77C=
ENST00000583173.5:c.52C=	ENSP00000463619.1:p.Leu18=
ENST00000583454.1:n.87C=
NM_207346.2:c.52C=	NP_997229.2:p.Leu18=
XM_005257229.2:c.52C=	XP_005257286.1:p.Leu18=
XM_006721821.2:c.-247-134C=	XP_006721884.1:n.-247-134C=
XM_011524616.1:c.52C=	XP_011522918.1:p.Leu18=
XM_011524617.1:c.52C=	XP_011522919.1:p.Leu18=
XM_011524618.1:c.52C=	XP_011522920.1:p.Leu18=
XR_243646.2:n.82C=
XM_005257229.4:c.52C=	XP_005257286.1:p.Leu18=
XR_243646.4:n.88C=
NM_207346.3:c.52C= MANE Select	NP_997229.2:p.Leu18=