Canonical Allele Identifier: CA401029687

Gene: TSEN54

Linked Data

• dbSNP Id: rs767911960
• gnomAD v2: 17-73518193-G-C
• gnomAD v4: 17-75522112-G-C
• MyVariant Identifiers: chr17:g.73518193G>C (hg19) ; chr17:g.75522112G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75522112G>C , CM000679.2:g.75522112G>C	GRCh38
NC_000017.10:g.73518193G>C , CM000679.1:g.73518193G>C	GRCh37
NC_000017.9:g.71029788G>C	NCBI36
NG_013041.1:g.10585G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1031G>C MANE Select	ENSP00000327487.6:p.Arg344Pro
ENST00000434205.8:c.728G>C	ENSP00000406559.4:p.Arg243Pro
ENST00000545228.3:c.1031G>C	ENSP00000438169.3:p.Arg344Pro
ENST00000579449.2:n.830G>C
ENST00000580013.6:n.1234G>C
ENST00000679370.1:n.1612G>C
ENST00000679429.1:c.*489G>C	ENSP00000505403.1:n.*489G>C
ENST00000679443.1:n.1100G>C
ENST00000679782.1:c.1031G>C	ENSP00000505995.1:p.Arg344Pro
ENST00000679919.1:n.1100G>C
ENST00000679928.1:c.*642G>C	ENSP00000506071.1:n.*642G>C
ENST00000680528.1:n.1056G>C
ENST00000680999.1:c.1031G>C	ENSP00000504984.1:p.Arg344Pro
ENST00000681282.1:c.*277G>C	ENSP00000506339.1:n.*277G>C
ENST00000333213.10:c.1031G>C	ENSP00000327487.6:p.Arg344Pro
ENST00000545228.2:c.120G>C
ENST00000578415.1:c.991G>C
ENST00000583173.5:c.564G>C	ENSP00000463619.1:n.564G>C
NM_207346.2:c.1031G>C	NP_997229.2:p.Arg344Pro
XM_005257229.2:c.1031G>C	XP_005257286.1:p.Arg344Pro
XM_006721821.2:c.728G>C	XP_006721884.1:p.Arg243Pro
XM_011524616.1:c.1031G>C	XP_011522918.1:p.Arg344Pro
XM_011524617.1:c.1031G>C	XP_011522919.1:p.Arg344Pro
XM_011524618.1:c.1031G>C	XP_011522920.1:p.Arg344Pro
XR_243646.2:n.1061G>C
XM_005257229.4:c.1031G>C	XP_005257286.1:p.Arg344Pro
XR_243646.4:n.1067G>C
NM_207346.3:c.1031G>C MANE Select	NP_997229.2:p.Arg344Pro