Canonical Allele Identifier: CA401031342

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 2014120
• ClinVar RCV Id: RCV002829877
• dbSNP Id: rs1326783189
• gnomAD v2: 17-73520432-A-G
• gnomAD v4: 17-75524351-A-G
• MyVariant Identifiers: chr17:g.73520432A>G (hg19) ; chr17:g.75524351A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524351A>G , CM000679.2:g.75524351A>G	GRCh38
NC_000017.10:g.73520432A>G , CM000679.1:g.73520432A>G	GRCh37
NC_000017.9:g.71032027A>G	NCBI36
NG_013041.1:g.12824A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1520A>G MANE Select	ENSP00000327487.6:p.His507Arg
ENST00000434205.8:c.1217A>G	ENSP00000406559.4:p.His406Arg
ENST00000545228.3:c.*19A>G	ENSP00000438169.3:n.*19A>G
ENST00000577197.2:n.718A>G
ENST00000579449.2:n.2260A>G
ENST00000580013.6:n.2664A>G
ENST00000679370.1:n.3042A>G
ENST00000679429.1:c.*978A>G	ENSP00000505403.1:n.*978A>G
ENST00000679443.1:n.1589A>G
ENST00000679782.1:c.*219A>G	ENSP00000505995.1:n.*219A>G
ENST00000679919.1:n.1791A>G
ENST00000679928.1:c.*2072A>G	ENSP00000506071.1:n.*2072A>G
ENST00000680528.1:n.2486A>G
ENST00000680999.1:c.1733A>G	ENSP00000504984.1:p.His578Arg
ENST00000681282.1:c.*1707A>G	ENSP00000506339.1:n.*1707A>G
ENST00000333213.10:c.1520A>G	ENSP00000327487.6:p.His507Arg
ENST00000545228.2:c.797A>G
ENST00000577197.1:n.268A>G
ENST00000579449.1:n.717A>G
NM_207346.2:c.1520A>G	NP_997229.2:p.His507Arg
XM_005257229.2:c.*19A>G	XP_005257286.1:n.*19A>G
XM_006721821.2:c.*19A>G	XP_006721884.1:n.*19A>G
XM_011524616.1:c.*19A>G	XP_011522918.1:n.*19A>G
XM_011524618.1:c.1403A>G	XP_011522920.1:p.His468Arg
XR_243646.2:n.1752A>G
XM_005257229.4:c.*19A>G	XP_005257286.1:n.*19A>G
XR_001753015.1:n.47T>C
XR_001753016.1:n.48T>C
XR_243646.4:n.1758A>G
NM_207346.3:c.1520A>G MANE Select	NP_997229.2:p.His507Arg