Canonical Allele Identifier: CA2275552726

Gene: TSEN54

Linked Data

• dbSNP Id: rs2053483856
• gnomAD v4: 17-75524629-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524629T>C , CM000679.2:g.75524629T>C	GRCh38
NC_000017.10:g.73520710T>C , CM000679.1:g.73520710T>C	GRCh37
NC_000017.9:g.71032305T>C	NCBI36
NG_013041.1:g.13102T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*217T>C MANE Select	ENSP00000327487.6:n.*217T>C
ENST00000434205.8:c.*217T>C	ENSP00000406559.4:n.*217T>C
ENST00000545228.3:c.*297T>C	ENSP00000438169.3:n.*297T>C
ENST00000577197.2:n.996T>C
ENST00000579449.2:n.2538T>C
ENST00000580013.6:n.2942T>C
ENST00000679370.1:n.3320T>C
ENST00000679429.1:c.*1256T>C	ENSP00000505403.1:n.*1256T>C
ENST00000679443.1:n.1867T>C
ENST00000679782.1:c.*497T>C	ENSP00000505995.1:n.*497T>C
ENST00000679919.1:n.2069T>C
ENST00000679928.1:c.*2350T>C	ENSP00000506071.1:n.*2350T>C
ENST00000680999.1:c.*217T>C	ENSP00000504984.1:n.*217T>C
ENST00000681282.1:c.*1985T>C	ENSP00000506339.1:n.*1985T>C
ENST00000333213.10:c.*217T>C	ENSP00000327487.6:n.*217T>C
ENST00000545228.2:c.1075T>C
ENST00000577197.1:n.546T>C
NM_207346.2:c.*217T>C	NP_997229.2:n.*217T>C
XM_005257229.2:c.*297T>C	XP_005257286.1:n.*297T>C
XM_006721821.2:c.*297T>C	XP_006721884.1:n.*297T>C
XM_011524616.1:c.*297T>C	XP_011522918.1:n.*297T>C
XM_011524618.1:c.*217T>C	XP_011522920.1:n.*217T>C
XR_243646.2:n.2030T>C
XM_005257229.4:c.*297T>C	XP_005257286.1:n.*297T>C
XR_243646.4:n.2036T>C
NM_207346.3:c.*217T>C MANE Select	NP_997229.2:n.*217T>C