Canonical Allele Identifier: CA8764242

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 3003246
• ClinVar RCV Id: RCV003867861
• dbSNP Id: rs537001715
• ExAC: 17:73517814 G / A
• gnomAD v2: 17-73517814-G-A
• gnomAD v3: 17-75521733-G-A
• gnomAD v4: 17-75521733-G-A
• MyVariant Identifiers: chr17:g.73517814G>A (hg19) ; chr17:g.75521733G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521733G>A , CM000679.2:g.75521733G>A	GRCh38
NC_000017.10:g.73517814G>A , CM000679.1:g.73517814G>A	GRCh37
NC_000017.9:g.71029409G>A	NCBI36
NG_013041.1:g.10206G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.652G>A MANE Select	ENSP00000327487.6:p.Asp218Asn
ENST00000434205.8:c.349G>A	ENSP00000406559.4:p.Asp117Asn
ENST00000545228.3:c.652G>A	ENSP00000438169.3:p.Asp218Asn
ENST00000579449.2:n.451G>A
ENST00000580013.6:n.855G>A
ENST00000583818.2:c.706G>A	ENSP00000461928.2:n.706G>A
ENST00000679370.1:n.1233G>A
ENST00000679429.1:c.*110G>A	ENSP00000505403.1:n.*110G>A
ENST00000679443.1:n.721G>A
ENST00000679782.1:c.652G>A	ENSP00000505995.1:p.Asp218Asn
ENST00000679919.1:n.721G>A
ENST00000679928.1:c.*263G>A	ENSP00000506071.1:n.*263G>A
ENST00000680528.1:n.677G>A
ENST00000680999.1:c.652G>A	ENSP00000504984.1:p.Asp218Asn
ENST00000681282.1:c.681G>A	ENSP00000506339.1:p.Trp227Ter
ENST00000333213.10:c.652G>A	ENSP00000327487.6:p.Asp218Asn
ENST00000578415.1:c.612G>A
ENST00000583173.5:c.458+223G>A	ENSP00000463619.1:n.458+223G>A
ENST00000583818.1:c.601G>A	ENSP00000461928.1:n.601G>A
NM_207346.2:c.652G>A	NP_997229.2:p.Asp218Asn
XM_005257229.2:c.652G>A	XP_005257286.1:p.Asp218Asn
XM_006721821.2:c.349G>A	XP_006721884.1:p.Asp117Asn
XM_011524616.1:c.652G>A	XP_011522918.1:p.Asp218Asn
XM_011524617.1:c.652G>A	XP_011522919.1:p.Asp218Asn
XM_011524618.1:c.652G>A	XP_011522920.1:p.Asp218Asn
XR_243646.2:n.682G>A
XM_005257229.4:c.652G>A	XP_005257286.1:p.Asp218Asn
XR_243646.4:n.688G>A
NM_207346.3:c.652G>A MANE Select	NP_997229.2:p.Asp218Asn