Canonical Allele Identifier: CA401026922

Gene: TSEN54

Linked Data

• dbSNP Id: rs1568000547
• MyVariant Identifiers: chr17:g.73512834G>A (hg19) ; chr17:g.75516753G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516753G>A , CM000679.2:g.75516753G>A	GRCh38
NC_000017.10:g.73512834G>A , CM000679.1:g.73512834G>A	GRCh37
NC_000017.9:g.71024429G>A	NCBI36
NG_013041.1:g.5226G>A
NG_033152.1:g.3831C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.64G>A MANE Select	ENSP00000327487.6:p.Glu22Lys
ENST00000434205.8:c.-82-256G>A	ENSP00000406559.4:n.-82-256G>A
ENST00000545228.3:c.64G>A	ENSP00000438169.3:p.Glu22Lys
ENST00000579449.2:n.20+137G>A
ENST00000580013.6:n.73G>A
ENST00000583818.2:c.64G>A	ENSP00000461928.2:p.Glu22Lys
ENST00000679370.1:n.451G>A
ENST00000679429.1:c.64G>A	ENSP00000505403.1:p.Glu22Lys
ENST00000679782.1:c.64G>A	ENSP00000505995.1:p.Glu22Lys
ENST00000679928.1:c.64G>A	ENSP00000506071.1:p.Glu22Lys
ENST00000680528.1:n.89G>A
ENST00000680999.1:c.64G>A	ENSP00000504984.1:p.Glu22Lys
ENST00000681282.1:c.64G>A	ENSP00000506339.1:p.Glu22Lys
ENST00000333213.10:c.64G>A	ENSP00000327487.6:p.Glu22Lys
ENST00000434205.7:c.-82-256G>A	ENSP00000406559.3:n.-82-256G>A
ENST00000580013.5:n.89G>A
ENST00000583173.5:c.56+137G>A	ENSP00000463619.1:n.56+137G>A
ENST00000583454.1:n.99G>A
NM_207346.2:c.64G>A	NP_997229.2:p.Glu22Lys
XM_005257229.2:c.64G>A	XP_005257286.1:p.Glu22Lys
XM_006721821.2:c.-240G>A	XP_006721884.1:n.-240G>A
XM_011524616.1:c.64G>A	XP_011522918.1:p.Glu22Lys
XM_011524617.1:c.64G>A	XP_011522919.1:p.Glu22Lys
XM_011524618.1:c.64G>A	XP_011522920.1:p.Glu22Lys
XR_243646.2:n.94G>A
XM_005257229.4:c.64G>A	XP_005257286.1:p.Glu22Lys
XR_243646.4:n.100G>A
NM_207346.3:c.64G>A MANE Select	NP_997229.2:p.Glu22Lys