Canonical Allele Identifier: CA2739561940

Gene: TSEN54

Genomic Alleles

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

Transcript Alleles

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