Canonical Allele Identifier: CA8764237

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 1033699
• ClinVar RCV Id: RCV003355403
• dbSNP Id: rs184421010
• ExAC: 17:73517799 A / G
• gnomAD v2: 17-73517799-A-G
• gnomAD v3: 17-75521718-A-G
• gnomAD v4: 17-75521718-A-G
• MyVariant Identifiers: chr17:g.73517799A>G (hg19) ; chr17:g.75521718A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521718A>G , CM000679.2:g.75521718A>G	GRCh38
NC_000017.10:g.73517799A>G , CM000679.1:g.73517799A>G	GRCh37
NC_000017.9:g.71029394A>G	NCBI36
NG_013041.1:g.10191A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000333213.11:c.637A>G MANE Select	ENSP00000327487.6:p.Lys213Glu
ENST00000434205.8:c.334A>G	ENSP00000406559.4:p.Lys112Glu
ENST00000545228.3:c.637A>G	ENSP00000438169.3:p.Lys213Glu
ENST00000579449.2:n.436A>G
ENST00000580013.6:n.840A>G
ENST00000583818.2:c.691A>G	ENSP00000461928.2:n.691A>G
ENST00000679370.1:n.1218A>G
ENST00000679429.1:c.*95A>G	ENSP00000505403.1:n.*95A>G
ENST00000679443.1:n.706A>G
ENST00000679782.1:c.637A>G	ENSP00000505995.1:p.Lys213Glu
ENST00000679919.1:n.706A>G
ENST00000679928.1:c.*248A>G	ENSP00000506071.1:n.*248A>G
ENST00000680528.1:n.662A>G
ENST00000680999.1:c.637A>G	ENSP00000504984.1:p.Lys213Glu
ENST00000681282.1:c.666A>G	ENSP00000506339.1:p.Arg222=
ENST00000333213.10:c.637A>G	ENSP00000327487.6:p.Lys213Glu
ENST00000578415.1:c.597A>G
ENST00000583173.5:c.458+208A>G	ENSP00000463619.1:n.458+208A>G
ENST00000583818.1:c.586A>G	ENSP00000461928.1:n.586A>G
NM_207346.2:c.637A>G	NP_997229.2:p.Lys213Glu
XM_005257229.2:c.637A>G	XP_005257286.1:p.Lys213Glu
XM_006721821.2:c.334A>G	XP_006721884.1:p.Lys112Glu
XM_011524616.1:c.637A>G	XP_011522918.1:p.Lys213Glu
XM_011524617.1:c.637A>G	XP_011522919.1:p.Lys213Glu
XM_011524618.1:c.637A>G	XP_011522920.1:p.Lys213Glu
XR_243646.2:n.667A>G
XM_005257229.4:c.637A>G	XP_005257286.1:p.Lys213Glu
XR_243646.4:n.673A>G
NM_207346.3:c.637A>G MANE Select	NP_997229.2:p.Lys213Glu