Canonical Allele Identifier: CA8764281

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 1987002
• ClinVar RCV Id: RCV002770950 ; RCV002770951
• dbSNP Id: rs762725861
• ExAC: 17:73517982 G / T
• gnomAD v2: 17-73517982-G-T
• gnomAD v3: 17-75521901-G-T
• gnomAD v4: 17-75521901-G-T
• MyVariant Identifiers: chr17:g.73517982G>T (hg19) ; chr17:g.75521901G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521901G>T , CM000679.2:g.75521901G>T	GRCh38
NC_000017.10:g.73517982G>T , CM000679.1:g.73517982G>T	GRCh37
NC_000017.9:g.71029577G>T	NCBI36
NG_013041.1:g.10374G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000333213.11:c.820G>T MANE Select	ENSP00000327487.6:p.Gly274Trp
ENST00000434205.8:c.517G>T	ENSP00000406559.4:p.Gly173Trp
ENST00000545228.3:c.820G>T	ENSP00000438169.3:p.Gly274Trp
ENST00000579449.2:n.619G>T
ENST00000580013.6:n.1023G>T
ENST00000679370.1:n.1401G>T
ENST00000679429.1:c.*278G>T	ENSP00000505403.1:n.*278G>T
ENST00000679443.1:n.889G>T
ENST00000679782.1:c.820G>T	ENSP00000505995.1:p.Gly274Trp
ENST00000679919.1:n.889G>T
ENST00000679928.1:c.*431G>T	ENSP00000506071.1:n.*431G>T
ENST00000680528.1:n.845G>T
ENST00000680999.1:c.820G>T	ENSP00000504984.1:p.Gly274Trp
ENST00000681282.1:c.*66G>T	ENSP00000506339.1:n.*66G>T
ENST00000333213.10:c.820G>T	ENSP00000327487.6:p.Gly274Trp
ENST00000578415.1:c.780G>T
ENST00000583173.5:c.459-106G>T	ENSP00000463619.1:n.459-106G>T
NM_207346.2:c.820G>T	NP_997229.2:p.Gly274Trp
XM_005257229.2:c.820G>T	XP_005257286.1:p.Gly274Trp
XM_006721821.2:c.517G>T	XP_006721884.1:p.Gly173Trp
XM_011524616.1:c.820G>T	XP_011522918.1:p.Gly274Trp
XM_011524617.1:c.820G>T	XP_011522919.1:p.Gly274Trp
XM_011524618.1:c.820G>T	XP_011522920.1:p.Gly274Trp
XR_243646.2:n.850G>T
XM_005257229.4:c.820G>T	XP_005257286.1:p.Gly274Trp
XR_243646.4:n.856G>T
NM_207346.3:c.820G>T MANE Select	NP_997229.2:p.Gly274Trp