Canonical Allele Identifier: CA401031154

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75524300-G-C
• MyVariant Identifiers: chr17:g.73520381G>C (hg19) ; chr17:g.75524300G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524300G>C , CM000679.2:g.75524300G>C	GRCh38
NC_000017.10:g.73520381G>C , CM000679.1:g.73520381G>C	GRCh37
NC_000017.9:g.71031976G>C	NCBI36
NG_013041.1:g.12773G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1469G>C MANE Select	ENSP00000327487.6:p.Arg490Pro
ENST00000434205.8:c.1166G>C	ENSP00000406559.4:p.Arg389Pro
ENST00000545228.3:c.1657G>C	ENSP00000438169.3:p.Gly553Arg
ENST00000577197.2:n.667G>C
ENST00000579449.2:n.2209G>C
ENST00000580013.6:n.2613G>C
ENST00000679370.1:n.2991G>C
ENST00000679429.1:c.*927G>C	ENSP00000505403.1:n.*927G>C
ENST00000679443.1:n.1538G>C
ENST00000679782.1:c.*168G>C	ENSP00000505995.1:n.*168G>C
ENST00000679919.1:n.1740G>C
ENST00000679928.1:c.*2021G>C	ENSP00000506071.1:n.*2021G>C
ENST00000680528.1:n.2435G>C
ENST00000680999.1:c.1682G>C	ENSP00000504984.1:p.Arg561Pro
ENST00000681282.1:c.*1656G>C	ENSP00000506339.1:n.*1656G>C
ENST00000333213.10:c.1469G>C	ENSP00000327487.6:p.Arg490Pro
ENST00000545228.2:c.746G>C
ENST00000577197.1:n.217G>C
ENST00000579449.1:n.666G>C
NM_207346.2:c.1469G>C	NP_997229.2:p.Arg490Pro
XM_005257229.2:c.1657G>C	XP_005257286.1:p.Gly553Arg
XM_006721821.2:c.1354G>C	XP_006721884.1:p.Gly452Arg
XM_011524616.1:c.1540G>C	XP_011522918.1:p.Gly514Arg
XM_011524617.1:c.*51G>C	XP_011522919.1:n.*51G>C
XM_011524618.1:c.1352G>C	XP_011522920.1:p.Arg451Pro
XR_243646.2:n.1701G>C
XM_005257229.4:c.1657G>C	XP_005257286.1:p.Gly553Arg
XR_001753015.1:n.87+11C>G
XR_001753016.1:n.88+11C>G
XR_243646.4:n.1707G>C
NM_207346.3:c.1469G>C MANE Select	NP_997229.2:p.Arg490Pro