Canonical Allele Identifier: CA8764261

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 1677154
• ClinVar RCV Id: RCV002223012
• dbSNP Id: rs369801130
• ExAC: 17:73517920 G / A
• gnomAD v2: 17-73517920-G-A
• gnomAD v3: 17-75521839-G-A
• gnomAD v4: 17-75521839-G-A
• MyVariant Identifiers: chr17:g.73517920G>A (hg19) ; chr17:g.75521839G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521839G>A , CM000679.2:g.75521839G>A	GRCh38
NC_000017.10:g.73517920G>A , CM000679.1:g.73517920G>A	GRCh37
NC_000017.9:g.71029515G>A	NCBI36
NG_013041.1:g.10312G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.758G>A MANE Select	ENSP00000327487.6:p.Gly253Asp
ENST00000434205.8:c.455G>A	ENSP00000406559.4:p.Gly152Asp
ENST00000545228.3:c.758G>A	ENSP00000438169.3:p.Gly253Asp
ENST00000579449.2:n.557G>A
ENST00000580013.6:n.961G>A
ENST00000583818.2:c.812G>A	ENSP00000461928.2:n.812G>A
ENST00000679370.1:n.1339G>A
ENST00000679429.1:c.*216G>A	ENSP00000505403.1:n.*216G>A
ENST00000679443.1:n.827G>A
ENST00000679782.1:c.758G>A	ENSP00000505995.1:p.Gly253Asp
ENST00000679919.1:n.827G>A
ENST00000679928.1:c.*369G>A	ENSP00000506071.1:n.*369G>A
ENST00000680528.1:n.783G>A
ENST00000680999.1:c.758G>A	ENSP00000504984.1:p.Gly253Asp
ENST00000681282.1:c.*4G>A	ENSP00000506339.1:n.*4G>A
ENST00000333213.10:c.758G>A	ENSP00000327487.6:p.Gly253Asp
ENST00000578415.1:c.718G>A
ENST00000583173.5:c.459-168G>A	ENSP00000463619.1:n.459-168G>A
ENST00000583818.1:c.707G>A	ENSP00000461928.1:n.707G>A
NM_207346.2:c.758G>A	NP_997229.2:p.Gly253Asp
XM_005257229.2:c.758G>A	XP_005257286.1:p.Gly253Asp
XM_006721821.2:c.455G>A	XP_006721884.1:p.Gly152Asp
XM_011524616.1:c.758G>A	XP_011522918.1:p.Gly253Asp
XM_011524617.1:c.758G>A	XP_011522919.1:p.Gly253Asp
XM_011524618.1:c.758G>A	XP_011522920.1:p.Gly253Asp
XR_243646.2:n.788G>A
XM_005257229.4:c.758G>A	XP_005257286.1:p.Gly253Asp
XR_243646.4:n.794G>A
NM_207346.3:c.758G>A MANE Select	NP_997229.2:p.Gly253Asp