Canonical Allele Identifier: CA294079314

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 1352735
• ClinVar RCV Id: RCV002039916
• dbSNP Id: rs994403512
• MyVariant Identifiers: chr17:g.73518190A>C (hg19) ; chr17:g.75522109A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75522109A>C , CM000679.2:g.75522109A>C	GRCh38
NC_000017.10:g.73518190A>C , CM000679.1:g.73518190A>C	GRCh37
NC_000017.9:g.71029785A>C	NCBI36
NG_013041.1:g.10582A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1028A>C MANE Select	ENSP00000327487.6:p.Gln343Pro
ENST00000434205.8:c.725A>C	ENSP00000406559.4:p.Gln242Pro
ENST00000545228.3:c.1028A>C	ENSP00000438169.3:p.Gln343Pro
ENST00000579449.2:n.827A>C
ENST00000580013.6:n.1231A>C
ENST00000679370.1:n.1609A>C
ENST00000679429.1:c.*486A>C	ENSP00000505403.1:n.*486A>C
ENST00000679443.1:n.1097A>C
ENST00000679782.1:c.1028A>C	ENSP00000505995.1:p.Gln343Pro
ENST00000679919.1:n.1097A>C
ENST00000679928.1:c.*639A>C	ENSP00000506071.1:n.*639A>C
ENST00000680528.1:n.1053A>C
ENST00000680999.1:c.1028A>C	ENSP00000504984.1:p.Gln343Pro
ENST00000681282.1:c.*274A>C	ENSP00000506339.1:n.*274A>C
ENST00000333213.10:c.1028A>C	ENSP00000327487.6:p.Gln343Pro
ENST00000545228.2:c.117A>C
ENST00000578415.1:c.988A>C
ENST00000583173.5:c.561A>C	ENSP00000463619.1:n.561A>C
NM_207346.2:c.1028A>C	NP_997229.2:p.Gln343Pro
XM_005257229.2:c.1028A>C	XP_005257286.1:p.Gln343Pro
XM_006721821.2:c.725A>C	XP_006721884.1:p.Gln242Pro
XM_011524616.1:c.1028A>C	XP_011522918.1:p.Gln343Pro
XM_011524617.1:c.1028A>C	XP_011522919.1:p.Gln343Pro
XM_011524618.1:c.1028A>C	XP_011522920.1:p.Gln343Pro
XR_243646.2:n.1058A>C
XM_005257229.4:c.1028A>C	XP_005257286.1:p.Gln343Pro
XR_243646.4:n.1064A>C
NM_207346.3:c.1028A>C MANE Select	NP_997229.2:p.Gln343Pro