Canonical Allele Identifier: CA401028816

Gene: TSEN54

Linked Data

• dbSNP Id: rs1276301439
• gnomAD v2: 17-73517896-C-G
• gnomAD v4: 17-75521815-C-G
• MyVariant Identifiers: chr17:g.73517896C>G (hg19) ; chr17:g.75521815C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521815C>G , CM000679.2:g.75521815C>G	GRCh38
NC_000017.10:g.73517896C>G , CM000679.1:g.73517896C>G	GRCh37
NC_000017.9:g.71029491C>G	NCBI36
NG_013041.1:g.10288C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.734C>G MANE Select	ENSP00000327487.6:p.Pro245Arg
ENST00000434205.8:c.431C>G	ENSP00000406559.4:p.Pro144Arg
ENST00000545228.3:c.734C>G	ENSP00000438169.3:p.Pro245Arg
ENST00000579449.2:n.533C>G
ENST00000580013.6:n.937C>G
ENST00000583818.2:c.788C>G	ENSP00000461928.2:n.788C>G
ENST00000679370.1:n.1315C>G
ENST00000679429.1:c.*192C>G	ENSP00000505403.1:n.*192C>G
ENST00000679443.1:n.803C>G
ENST00000679782.1:c.734C>G	ENSP00000505995.1:p.Pro245Arg
ENST00000679919.1:n.803C>G
ENST00000679928.1:c.*345C>G	ENSP00000506071.1:n.*345C>G
ENST00000680528.1:n.759C>G
ENST00000680999.1:c.734C>G	ENSP00000504984.1:p.Pro245Arg
ENST00000681282.1:c.763C>G	ENSP00000506339.1:p.Pro255Ala
ENST00000333213.10:c.734C>G	ENSP00000327487.6:p.Pro245Arg
ENST00000578415.1:c.694C>G
ENST00000583173.5:c.459-192C>G	ENSP00000463619.1:n.459-192C>G
ENST00000583818.1:c.683C>G	ENSP00000461928.1:n.683C>G
NM_207346.2:c.734C>G	NP_997229.2:p.Pro245Arg
XM_005257229.2:c.734C>G	XP_005257286.1:p.Pro245Arg
XM_006721821.2:c.431C>G	XP_006721884.1:p.Pro144Arg
XM_011524616.1:c.734C>G	XP_011522918.1:p.Pro245Arg
XM_011524617.1:c.734C>G	XP_011522919.1:p.Pro245Arg
XM_011524618.1:c.734C>G	XP_011522920.1:p.Pro245Arg
XR_243646.2:n.764C>G
XM_005257229.4:c.734C>G	XP_005257286.1:p.Pro245Arg
XR_243646.4:n.770C>G
NM_207346.3:c.734C>G MANE Select	NP_997229.2:p.Pro245Arg