Canonical Allele Identifier: CA502046169

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 1912699
• ClinVar RCV Id: RCV002601026
• dbSNP Id: rs745996746
• gnomAD v2: 17-73518101-C-T
• gnomAD v4: 17-75522020-C-T
• MyVariant Identifiers: chr17:g.73518101C>T (hg19) ; chr17:g.75522020C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75522020C>T , CM000679.2:g.75522020C>T	GRCh38
NC_000017.10:g.73518101C>T , CM000679.1:g.73518101C>T	GRCh37
NC_000017.9:g.71029696C>T	NCBI36
NG_013041.1:g.10493C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.939C>T MANE Select	ENSP00000327487.6:p.Thr313=
ENST00000434205.8:c.636C>T	ENSP00000406559.4:p.Thr212=
ENST00000545228.3:c.939C>T	ENSP00000438169.3:p.Thr313=
ENST00000579449.2:n.738C>T
ENST00000580013.6:n.1142C>T
ENST00000679370.1:n.1520C>T
ENST00000679429.1:c.*397C>T	ENSP00000505403.1:n.*397C>T
ENST00000679443.1:n.1008C>T
ENST00000679782.1:c.939C>T	ENSP00000505995.1:p.Thr313=
ENST00000679919.1:n.1008C>T
ENST00000679928.1:c.*550C>T	ENSP00000506071.1:n.*550C>T
ENST00000680528.1:n.964C>T
ENST00000680999.1:c.939C>T	ENSP00000504984.1:p.Thr313=
ENST00000681282.1:c.*185C>T	ENSP00000506339.1:n.*185C>T
ENST00000333213.10:c.939C>T	ENSP00000327487.6:p.Thr313=
ENST00000545228.2:c.28C>T
ENST00000578415.1:c.899C>T
ENST00000583173.5:c.472C>T	ENSP00000463619.1:p.Pro158Ser
NM_207346.2:c.939C>T	NP_997229.2:p.Thr313=
XM_005257229.2:c.939C>T	XP_005257286.1:p.Thr313=
XM_006721821.2:c.636C>T	XP_006721884.1:p.Thr212=
XM_011524616.1:c.939C>T	XP_011522918.1:p.Thr313=
XM_011524617.1:c.939C>T	XP_011522919.1:p.Thr313=
XM_011524618.1:c.939C>T	XP_011522920.1:p.Thr313=
XR_243646.2:n.969C>T
XM_005257229.4:c.939C>T	XP_005257286.1:p.Thr313=
XR_243646.4:n.975C>T
NM_207346.3:c.939C>T MANE Select	NP_997229.2:p.Thr313=