Canonical Allele Identifier: CA401029231

Gene: TSEN54

Linked Data

• dbSNP Id: rs1452630857
• gnomAD v3: 17-75521928-A-G
• gnomAD v4: 17-75521928-A-G
• MyVariant Identifiers: chr17:g.73518009A>G (hg19) ; chr17:g.75521928A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521928A>G , CM000679.2:g.75521928A>G	GRCh38
NC_000017.10:g.73518009A>G , CM000679.1:g.73518009A>G	GRCh37
NC_000017.9:g.71029604A>G	NCBI36
NG_013041.1:g.10401A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.847A>G MANE Select	ENSP00000327487.6:p.Arg283Gly
ENST00000434205.8:c.544A>G	ENSP00000406559.4:p.Arg182Gly
ENST00000545228.3:c.847A>G	ENSP00000438169.3:p.Arg283Gly
ENST00000579449.2:n.646A>G
ENST00000580013.6:n.1050A>G
ENST00000679370.1:n.1428A>G
ENST00000679429.1:c.*305A>G	ENSP00000505403.1:n.*305A>G
ENST00000679443.1:n.916A>G
ENST00000679782.1:c.847A>G	ENSP00000505995.1:p.Arg283Gly
ENST00000679919.1:n.916A>G
ENST00000679928.1:c.*458A>G	ENSP00000506071.1:n.*458A>G
ENST00000680528.1:n.872A>G
ENST00000680999.1:c.847A>G	ENSP00000504984.1:p.Arg283Gly
ENST00000681282.1:c.*93A>G	ENSP00000506339.1:n.*93A>G
ENST00000333213.10:c.847A>G	ENSP00000327487.6:p.Arg283Gly
ENST00000578415.1:c.807A>G
ENST00000583173.5:c.459-79A>G	ENSP00000463619.1:n.459-79A>G
NM_207346.2:c.847A>G	NP_997229.2:p.Arg283Gly
XM_005257229.2:c.847A>G	XP_005257286.1:p.Arg283Gly
XM_006721821.2:c.544A>G	XP_006721884.1:p.Arg182Gly
XM_011524616.1:c.847A>G	XP_011522918.1:p.Arg283Gly
XM_011524617.1:c.847A>G	XP_011522919.1:p.Arg283Gly
XM_011524618.1:c.847A>G	XP_011522920.1:p.Arg283Gly
XR_243646.2:n.877A>G
XM_005257229.4:c.847A>G	XP_005257286.1:p.Arg283Gly
XR_243646.4:n.883A>G
NM_207346.3:c.847A>G MANE Select	NP_997229.2:p.Arg283Gly