Canonical Allele Identifier: CA502045711

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73517553T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521472T>C , CM000679.2:g.75521472T>C	GRCh38
NC_000017.10:g.73517553T>C , CM000679.1:g.73517553T>C	GRCh37
NC_000017.9:g.71029148T>C	NCBI36
NG_013041.1:g.9945T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.585T>C MANE Select	ENSP00000327487.6:p.Asp195=
ENST00000434205.8:c.282T>C	ENSP00000406559.4:p.Asp94=
ENST00000545228.3:c.585T>C	ENSP00000438169.3:p.Asp195=
ENST00000579449.2:n.384T>C
ENST00000580013.6:n.594T>C
ENST00000583818.2:c.639T>C	ENSP00000461928.2:n.639T>C
ENST00000679370.1:n.972T>C
ENST00000679429.1:c.*43T>C	ENSP00000505403.1:n.*43T>C
ENST00000679443.1:n.460T>C
ENST00000679782.1:c.585T>C	ENSP00000505995.1:p.Asp195=
ENST00000679919.1:n.460T>C
ENST00000679928.1:c.*196T>C	ENSP00000506071.1:n.*196T>C
ENST00000680528.1:n.610T>C
ENST00000680999.1:c.585T>C	ENSP00000504984.1:p.Asp195=
ENST00000681282.1:c.585T>C	ENSP00000506339.1:p.Asp195=
ENST00000333213.10:c.585T>C	ENSP00000327487.6:p.Asp195=
ENST00000578415.1:c.545T>C
ENST00000583173.5:c.420T>C	ENSP00000463619.1:p.Asp140=
ENST00000583818.1:c.534T>C	ENSP00000461928.1:n.534T>C
NM_207346.2:c.585T>C	NP_997229.2:p.Asp195=
XM_005257229.2:c.585T>C	XP_005257286.1:p.Asp195=
XM_006721821.2:c.282T>C	XP_006721884.1:p.Asp94=
XM_011524616.1:c.585T>C	XP_011522918.1:p.Asp195=
XM_011524617.1:c.585T>C	XP_011522919.1:p.Asp195=
XM_011524618.1:c.585T>C	XP_011522920.1:p.Asp195=
XR_243646.2:n.615T>C
XM_005257229.4:c.585T>C	XP_005257286.1:p.Asp195=
XR_243646.4:n.621T>C
NM_207346.3:c.585T>C MANE Select	NP_997229.2:p.Asp195=