Canonical Allele Identifier: CA2639836763

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75524686-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524686T>C , CM000679.2:g.75524686T>C	GRCh38
NC_000017.10:g.73520767T>C , CM000679.1:g.73520767T>C	GRCh37
NC_000017.9:g.71032362T>C	NCBI36
NG_013041.1:g.13159T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*274T>C MANE Select	ENSP00000327487.6:n.*274T>C
ENST00000434205.8:c.*274T>C	ENSP00000406559.4:n.*274T>C
ENST00000545228.3:c.*354T>C	ENSP00000438169.3:n.*354T>C
ENST00000577197.2:n.1053T>C
ENST00000579449.2:n.2595T>C
ENST00000580013.6:n.2999T>C
ENST00000679370.1:n.3377T>C
ENST00000679429.1:c.*1313T>C	ENSP00000505403.1:n.*1313T>C
ENST00000679443.1:n.1924T>C
ENST00000679782.1:c.*554T>C	ENSP00000505995.1:n.*554T>C
ENST00000679919.1:n.2126T>C
ENST00000679928.1:c.*2407T>C	ENSP00000506071.1:n.*2407T>C
ENST00000680999.1:c.*274T>C	ENSP00000504984.1:n.*274T>C
ENST00000681282.1:c.*2042T>C	ENSP00000506339.1:n.*2042T>C
ENST00000333213.10:c.*274T>C	ENSP00000327487.6:n.*274T>C
ENST00000545228.2:c.1132T>C
ENST00000577197.1:n.603T>C
NM_207346.2:c.*274T>C	NP_997229.2:n.*274T>C
XM_005257229.2:c.*354T>C	XP_005257286.1:n.*354T>C
XM_006721821.2:c.*354T>C	XP_006721884.1:n.*354T>C
XM_011524616.1:c.*354T>C	XP_011522918.1:n.*354T>C
XM_011524618.1:c.*274T>C	XP_011522920.1:n.*274T>C
XR_243646.2:n.2087T>C
XM_005257229.4:c.*354T>C	XP_005257286.1:n.*354T>C
XR_243646.4:n.2093T>C
NM_207346.3:c.*274T>C MANE Select	NP_997229.2:n.*274T>C