Canonical Allele Identifier: CA2639836633

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75524643-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524643G>C , CM000679.2:g.75524643G>C	GRCh38
NC_000017.10:g.73520724G>C , CM000679.1:g.73520724G>C	GRCh37
NC_000017.9:g.71032319G>C	NCBI36
NG_013041.1:g.13116G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*231G>C MANE Select	ENSP00000327487.6:n.*231G>C
ENST00000434205.8:c.*231G>C	ENSP00000406559.4:n.*231G>C
ENST00000545228.3:c.*311G>C	ENSP00000438169.3:n.*311G>C
ENST00000577197.2:n.1010G>C
ENST00000579449.2:n.2552G>C
ENST00000580013.6:n.2956G>C
ENST00000679370.1:n.3334G>C
ENST00000679429.1:c.*1270G>C	ENSP00000505403.1:n.*1270G>C
ENST00000679443.1:n.1881G>C
ENST00000679782.1:c.*511G>C	ENSP00000505995.1:n.*511G>C
ENST00000679919.1:n.2083G>C
ENST00000679928.1:c.*2364G>C	ENSP00000506071.1:n.*2364G>C
ENST00000680999.1:c.*231G>C	ENSP00000504984.1:n.*231G>C
ENST00000681282.1:c.*1999G>C	ENSP00000506339.1:n.*1999G>C
ENST00000333213.10:c.*231G>C	ENSP00000327487.6:n.*231G>C
ENST00000545228.2:c.1089G>C
ENST00000577197.1:n.560G>C
NM_207346.2:c.*231G>C	NP_997229.2:n.*231G>C
XM_005257229.2:c.*311G>C	XP_005257286.1:n.*311G>C
XM_006721821.2:c.*311G>C	XP_006721884.1:n.*311G>C
XM_011524616.1:c.*311G>C	XP_011522918.1:n.*311G>C
XM_011524618.1:c.*231G>C	XP_011522920.1:n.*231G>C
XR_243646.2:n.2044G>C
XM_005257229.4:c.*311G>C	XP_005257286.1:n.*311G>C
XR_243646.4:n.2050G>C
NM_207346.3:c.*231G>C MANE Select	NP_997229.2:n.*231G>C