Canonical Allele Identifier: CA2639836432

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75524563-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524563A>C , CM000679.2:g.75524563A>C	GRCh38
NC_000017.10:g.73520644A>C , CM000679.1:g.73520644A>C	GRCh37
NC_000017.9:g.71032239A>C	NCBI36
NG_013041.1:g.13036A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*151A>C MANE Select	ENSP00000327487.6:n.*151A>C
ENST00000434205.8:c.*151A>C	ENSP00000406559.4:n.*151A>C
ENST00000545228.3:c.*231A>C	ENSP00000438169.3:n.*231A>C
ENST00000577197.2:n.930A>C
ENST00000579449.2:n.2472A>C
ENST00000580013.6:n.2876A>C
ENST00000679370.1:n.3254A>C
ENST00000679429.1:c.*1190A>C	ENSP00000505403.1:n.*1190A>C
ENST00000679443.1:n.1801A>C
ENST00000679782.1:c.*431A>C	ENSP00000505995.1:n.*431A>C
ENST00000679919.1:n.2003A>C
ENST00000679928.1:c.*2284A>C	ENSP00000506071.1:n.*2284A>C
ENST00000680999.1:c.*151A>C	ENSP00000504984.1:n.*151A>C
ENST00000681282.1:c.*1919A>C	ENSP00000506339.1:n.*1919A>C
ENST00000333213.10:c.*151A>C	ENSP00000327487.6:n.*151A>C
ENST00000545228.2:c.1009A>C
ENST00000577197.1:n.480A>C
NM_207346.2:c.*151A>C	NP_997229.2:n.*151A>C
XM_005257229.2:c.*231A>C	XP_005257286.1:n.*231A>C
XM_006721821.2:c.*231A>C	XP_006721884.1:n.*231A>C
XM_011524616.1:c.*231A>C	XP_011522918.1:n.*231A>C
XM_011524618.1:c.*151A>C	XP_011522920.1:n.*151A>C
XR_243646.2:n.1964A>C
XM_005257229.4:c.*231A>C	XP_005257286.1:n.*231A>C
XR_243646.4:n.1970A>C
NM_207346.3:c.*151A>C MANE Select	NP_997229.2:n.*151A>C