Canonical Allele Identifier: CA401029410

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 1952983
• ClinVar RCV Id: RCV002672133
• gnomAD v4: 17-75521982-A-G
• MyVariant Identifiers: chr17:g.73518063A>G (hg19) ; chr17:g.75521982A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521982A>G , CM000679.2:g.75521982A>G	GRCh38
NC_000017.10:g.73518063A>G , CM000679.1:g.73518063A>G	GRCh37
NC_000017.9:g.71029658A>G	NCBI36
NG_013041.1:g.10455A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.901A>G MANE Select	ENSP00000327487.6:p.Ile301Val
ENST00000434205.8:c.598A>G	ENSP00000406559.4:p.Ile200Val
ENST00000545228.3:c.901A>G	ENSP00000438169.3:p.Ile301Val
ENST00000579449.2:n.700A>G
ENST00000580013.6:n.1104A>G
ENST00000679370.1:n.1482A>G
ENST00000679429.1:c.*359A>G	ENSP00000505403.1:n.*359A>G
ENST00000679443.1:n.970A>G
ENST00000679782.1:c.901A>G	ENSP00000505995.1:p.Ile301Val
ENST00000679919.1:n.970A>G
ENST00000679928.1:c.*512A>G	ENSP00000506071.1:n.*512A>G
ENST00000680528.1:n.926A>G
ENST00000680999.1:c.901A>G	ENSP00000504984.1:p.Ile301Val
ENST00000681282.1:c.*147A>G	ENSP00000506339.1:n.*147A>G
ENST00000333213.10:c.901A>G	ENSP00000327487.6:p.Ile301Val
ENST00000578415.1:c.861A>G
ENST00000583173.5:c.459-25A>G	ENSP00000463619.1:n.459-25A>G
NM_207346.2:c.901A>G	NP_997229.2:p.Ile301Val
XM_005257229.2:c.901A>G	XP_005257286.1:p.Ile301Val
XM_006721821.2:c.598A>G	XP_006721884.1:p.Ile200Val
XM_011524616.1:c.901A>G	XP_011522918.1:p.Ile301Val
XM_011524617.1:c.901A>G	XP_011522919.1:p.Ile301Val
XM_011524618.1:c.901A>G	XP_011522920.1:p.Ile301Val
XR_243646.2:n.931A>G
XM_005257229.4:c.901A>G	XP_005257286.1:p.Ile301Val
XR_243646.4:n.937A>G
NM_207346.3:c.901A>G MANE Select	NP_997229.2:p.Ile301Val