Canonical Allele Identifier: CA8764324

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 890809
• ClinVar RCV Id: RCV001125684
• dbSNP Id: rs759944703
• ExAC: 17:73518192 C / T
• gnomAD v2: 17-73518192-C-T
• gnomAD v3: 17-75522111-C-T
• gnomAD v4: 17-75522111-C-T
• MyVariant Identifiers: chr17:g.73518192C>T (hg19) ; chr17:g.75522111C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75522111C>T , CM000679.2:g.75522111C>T	GRCh38
NC_000017.10:g.73518192C>T , CM000679.1:g.73518192C>T	GRCh37
NC_000017.9:g.71029787C>T	NCBI36
NG_013041.1:g.10584C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000333213.11:c.1030C>T MANE Select	ENSP00000327487.6:p.Arg344Cys
ENST00000434205.8:c.727C>T	ENSP00000406559.4:p.Arg243Cys
ENST00000545228.3:c.1030C>T	ENSP00000438169.3:p.Arg344Cys
ENST00000579449.2:n.829C>T
ENST00000580013.6:n.1233C>T
ENST00000679370.1:n.1611C>T
ENST00000679429.1:c.*488C>T	ENSP00000505403.1:n.*488C>T
ENST00000679443.1:n.1099C>T
ENST00000679782.1:c.1030C>T	ENSP00000505995.1:p.Arg344Cys
ENST00000679919.1:n.1099C>T
ENST00000679928.1:c.*641C>T	ENSP00000506071.1:n.*641C>T
ENST00000680528.1:n.1055C>T
ENST00000680999.1:c.1030C>T	ENSP00000504984.1:p.Arg344Cys
ENST00000681282.1:c.*276C>T	ENSP00000506339.1:n.*276C>T
ENST00000333213.10:c.1030C>T	ENSP00000327487.6:p.Arg344Cys
ENST00000545228.2:c.119C>T
ENST00000578415.1:c.990C>T
ENST00000583173.5:c.563C>T	ENSP00000463619.1:n.563C>T
NM_207346.2:c.1030C>T	NP_997229.2:p.Arg344Cys
XM_005257229.2:c.1030C>T	XP_005257286.1:p.Arg344Cys
XM_006721821.2:c.727C>T	XP_006721884.1:p.Arg243Cys
XM_011524616.1:c.1030C>T	XP_011522918.1:p.Arg344Cys
XM_011524617.1:c.1030C>T	XP_011522919.1:p.Arg344Cys
XM_011524618.1:c.1030C>T	XP_011522920.1:p.Arg344Cys
XR_243646.2:n.1060C>T
XM_005257229.4:c.1030C>T	XP_005257286.1:p.Arg344Cys
XR_243646.4:n.1066C>T
NM_207346.3:c.1030C>T MANE Select	NP_997229.2:p.Arg344Cys