Canonical Allele Identifier: CA2739561938

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524553A>T , CM000679.2:g.75524553A>T	GRCh38
NC_000017.10:g.73520634A>T , CM000679.1:g.73520634A>T	GRCh37
NC_000017.9:g.71032229A>T	NCBI36
NG_013041.1:g.13026A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*141A>T MANE Select	ENSP00000327487.6:n.*141A>T
ENST00000434205.8:c.*141A>T	ENSP00000406559.4:n.*141A>T
ENST00000545228.3:c.*221A>T	ENSP00000438169.3:n.*221A>T
ENST00000577197.2:n.920A>T
ENST00000579449.2:n.2462A>T
ENST00000580013.6:n.2866A>T
ENST00000679370.1:n.3244A>T
ENST00000679429.1:c.*1180A>T	ENSP00000505403.1:n.*1180A>T
ENST00000679443.1:n.1791A>T
ENST00000679782.1:c.*421A>T	ENSP00000505995.1:n.*421A>T
ENST00000679919.1:n.1993A>T
ENST00000679928.1:c.*2274A>T	ENSP00000506071.1:n.*2274A>T
ENST00000680999.1:c.*141A>T	ENSP00000504984.1:n.*141A>T
ENST00000681282.1:c.*1909A>T	ENSP00000506339.1:n.*1909A>T
ENST00000333213.10:c.*141A>T	ENSP00000327487.6:n.*141A>T
ENST00000545228.2:c.999A>T
ENST00000577197.1:n.470A>T
NM_207346.2:c.*141A>T	NP_997229.2:n.*141A>T
XM_005257229.2:c.*221A>T	XP_005257286.1:n.*221A>T
XM_006721821.2:c.*221A>T	XP_006721884.1:n.*221A>T
XM_011524616.1:c.*221A>T	XP_011522918.1:n.*221A>T
XM_011524618.1:c.*141A>T	XP_011522920.1:n.*141A>T
XR_243646.2:n.1954A>T
XM_005257229.4:c.*221A>T	XP_005257286.1:n.*221A>T
XR_243646.4:n.1960A>T
NM_207346.3:c.*141A>T MANE Select	NP_997229.2:n.*141A>T