Canonical Allele Identifier: CA2739561884

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524513A>T , CM000679.2:g.75524513A>T	GRCh38
NC_000017.10:g.73520594A>T , CM000679.1:g.73520594A>T	GRCh37
NC_000017.9:g.71032189A>T	NCBI36
NG_013041.1:g.12986A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*101A>T MANE Select	ENSP00000327487.6:n.*101A>T
ENST00000434205.8:c.*101A>T	ENSP00000406559.4:n.*101A>T
ENST00000545228.3:c.*181A>T	ENSP00000438169.3:n.*181A>T
ENST00000577197.2:n.880A>T
ENST00000579449.2:n.2422A>T
ENST00000580013.6:n.2826A>T
ENST00000679370.1:n.3204A>T
ENST00000679429.1:c.*1140A>T	ENSP00000505403.1:n.*1140A>T
ENST00000679443.1:n.1751A>T
ENST00000679782.1:c.*381A>T	ENSP00000505995.1:n.*381A>T
ENST00000679919.1:n.1953A>T
ENST00000679928.1:c.*2234A>T	ENSP00000506071.1:n.*2234A>T
ENST00000680999.1:c.*101A>T	ENSP00000504984.1:n.*101A>T
ENST00000681282.1:c.*1869A>T	ENSP00000506339.1:n.*1869A>T
ENST00000333213.10:c.*101A>T	ENSP00000327487.6:n.*101A>T
ENST00000545228.2:c.959A>T
ENST00000577197.1:n.430A>T
NM_207346.2:c.*101A>T	NP_997229.2:n.*101A>T
XM_005257229.2:c.*181A>T	XP_005257286.1:n.*181A>T
XM_006721821.2:c.*181A>T	XP_006721884.1:n.*181A>T
XM_011524616.1:c.*181A>T	XP_011522918.1:n.*181A>T
XM_011524618.1:c.*101A>T	XP_011522920.1:n.*101A>T
XR_243646.2:n.1914A>T
XM_005257229.4:c.*181A>T	XP_005257286.1:n.*181A>T
XR_243646.4:n.1920A>T
NM_207346.3:c.*101A>T MANE Select	NP_997229.2:n.*101A>T