Canonical Allele Identifier: CA2810433133

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524673T>C , CM000679.2:g.75524673T>C	GRCh38
NC_000017.10:g.73520754T>C , CM000679.1:g.73520754T>C	GRCh37
NC_000017.9:g.71032349T>C	NCBI36
NG_013041.1:g.13146T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*261T>C MANE Select	ENSP00000327487.6:n.*261T>C
ENST00000434205.8:c.*261T>C	ENSP00000406559.4:n.*261T>C
ENST00000545228.3:c.*341T>C	ENSP00000438169.3:n.*341T>C
ENST00000577197.2:n.1040T>C
ENST00000579449.2:n.2582T>C
ENST00000580013.6:n.2986T>C
ENST00000679370.1:n.3364T>C
ENST00000679429.1:c.*1300T>C	ENSP00000505403.1:n.*1300T>C
ENST00000679443.1:n.1911T>C
ENST00000679782.1:c.*541T>C	ENSP00000505995.1:n.*541T>C
ENST00000679919.1:n.2113T>C
ENST00000679928.1:c.*2394T>C	ENSP00000506071.1:n.*2394T>C
ENST00000680999.1:c.*261T>C	ENSP00000504984.1:n.*261T>C
ENST00000681282.1:c.*2029T>C	ENSP00000506339.1:n.*2029T>C
ENST00000333213.10:c.*261T>C	ENSP00000327487.6:n.*261T>C
ENST00000545228.2:c.1119T>C
ENST00000577197.1:n.590T>C
NM_207346.2:c.*261T>C	NP_997229.2:n.*261T>C
XM_005257229.2:c.*341T>C	XP_005257286.1:n.*341T>C
XM_006721821.2:c.*341T>C	XP_006721884.1:n.*341T>C
XM_011524616.1:c.*341T>C	XP_011522918.1:n.*341T>C
XM_011524618.1:c.*261T>C	XP_011522920.1:n.*261T>C
XR_243646.2:n.2074T>C
XM_005257229.4:c.*341T>C	XP_005257286.1:n.*341T>C
XR_243646.4:n.2080T>C
NM_207346.3:c.*261T>C MANE Select	NP_997229.2:n.*261T>C