Canonical Allele Identifier: CA2275552772

Gene: TSEN54

Linked Data

• dbSNP Id: rs2053485735

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524702T>C , CM000679.2:g.75524702T>C	GRCh38
NC_000017.10:g.73520783T>C , CM000679.1:g.73520783T>C	GRCh37
NC_000017.9:g.71032378T>C	NCBI36
NG_013041.1:g.13175T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*290T>C MANE Select	ENSP00000327487.6:n.*290T>C
ENST00000434205.8:c.*290T>C	ENSP00000406559.4:n.*290T>C
ENST00000577197.2:n.1069T>C
ENST00000579449.2:n.2611T>C
ENST00000580013.6:n.3015T>C
ENST00000679370.1:n.3393T>C
ENST00000679429.1:c.*1329T>C	ENSP00000505403.1:n.*1329T>C
ENST00000679928.1:c.*2423T>C	ENSP00000506071.1:n.*2423T>C
ENST00000681282.1:c.*2058T>C	ENSP00000506339.1:n.*2058T>C
ENST00000333213.10:c.*290T>C	ENSP00000327487.6:n.*290T>C
ENST00000577197.1:n.619T>C
NM_207346.2:c.*290T>C	NP_997229.2:n.*290T>C
XM_005257229.2:c.*370T>C	XP_005257286.1:n.*370T>C
XM_006721821.2:c.*370T>C	XP_006721884.1:n.*370T>C
XM_011524616.1:c.*370T>C	XP_011522918.1:n.*370T>C
XM_011524618.1:c.*290T>C	XP_011522920.1:n.*290T>C
XR_243646.2:n.2103T>C
XM_005257229.4:c.*370T>C	XP_005257286.1:n.*370T>C
XR_243646.4:n.2109T>C
NM_207346.3:c.*290T>C MANE Select	NP_997229.2:n.*290T>C