Canonical Allele Identifier: CA2739561951

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524562G>C , CM000679.2:g.75524562G>C	GRCh38
NC_000017.10:g.73520643G>C , CM000679.1:g.73520643G>C	GRCh37
NC_000017.9:g.71032238G>C	NCBI36
NG_013041.1:g.13035G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*150G>C MANE Select	ENSP00000327487.6:n.*150G>C
ENST00000434205.8:c.*150G>C	ENSP00000406559.4:n.*150G>C
ENST00000545228.3:c.*230G>C	ENSP00000438169.3:n.*230G>C
ENST00000577197.2:n.929G>C
ENST00000579449.2:n.2471G>C
ENST00000580013.6:n.2875G>C
ENST00000679370.1:n.3253G>C
ENST00000679429.1:c.*1189G>C	ENSP00000505403.1:n.*1189G>C
ENST00000679443.1:n.1800G>C
ENST00000679782.1:c.*430G>C	ENSP00000505995.1:n.*430G>C
ENST00000679919.1:n.2002G>C
ENST00000679928.1:c.*2283G>C	ENSP00000506071.1:n.*2283G>C
ENST00000680999.1:c.*150G>C	ENSP00000504984.1:n.*150G>C
ENST00000681282.1:c.*1918G>C	ENSP00000506339.1:n.*1918G>C
ENST00000333213.10:c.*150G>C	ENSP00000327487.6:n.*150G>C
ENST00000545228.2:c.1008G>C
ENST00000577197.1:n.479G>C
NM_207346.2:c.*150G>C	NP_997229.2:n.*150G>C
XM_005257229.2:c.*230G>C	XP_005257286.1:n.*230G>C
XM_006721821.2:c.*230G>C	XP_006721884.1:n.*230G>C
XM_011524616.1:c.*230G>C	XP_011522918.1:n.*230G>C
XM_011524618.1:c.*150G>C	XP_011522920.1:n.*150G>C
XR_243646.2:n.1963G>C
XM_005257229.4:c.*230G>C	XP_005257286.1:n.*230G>C
XR_243646.4:n.1969G>C
NM_207346.3:c.*150G>C MANE Select	NP_997229.2:n.*150G>C