Canonical Allele Identifier: CA2739561905

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524526A>G , CM000679.2:g.75524526A>G	GRCh38
NC_000017.10:g.73520607A>G , CM000679.1:g.73520607A>G	GRCh37
NC_000017.9:g.71032202A>G	NCBI36
NG_013041.1:g.12999A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*114A>G MANE Select	ENSP00000327487.6:n.*114A>G
ENST00000434205.8:c.*114A>G	ENSP00000406559.4:n.*114A>G
ENST00000545228.3:c.*194A>G	ENSP00000438169.3:n.*194A>G
ENST00000577197.2:n.893A>G
ENST00000579449.2:n.2435A>G
ENST00000580013.6:n.2839A>G
ENST00000679370.1:n.3217A>G
ENST00000679429.1:c.*1153A>G	ENSP00000505403.1:n.*1153A>G
ENST00000679443.1:n.1764A>G
ENST00000679782.1:c.*394A>G	ENSP00000505995.1:n.*394A>G
ENST00000679919.1:n.1966A>G
ENST00000679928.1:c.*2247A>G	ENSP00000506071.1:n.*2247A>G
ENST00000680999.1:c.*114A>G	ENSP00000504984.1:n.*114A>G
ENST00000681282.1:c.*1882A>G	ENSP00000506339.1:n.*1882A>G
ENST00000333213.10:c.*114A>G	ENSP00000327487.6:n.*114A>G
ENST00000545228.2:c.972A>G
ENST00000577197.1:n.443A>G
NM_207346.2:c.*114A>G	NP_997229.2:n.*114A>G
XM_005257229.2:c.*194A>G	XP_005257286.1:n.*194A>G
XM_006721821.2:c.*194A>G	XP_006721884.1:n.*194A>G
XM_011524616.1:c.*194A>G	XP_011522918.1:n.*194A>G
XM_011524618.1:c.*114A>G	XP_011522920.1:n.*114A>G
XR_243646.2:n.1927A>G
XM_005257229.4:c.*194A>G	XP_005257286.1:n.*194A>G
XR_243646.4:n.1933A>G
NM_207346.3:c.*114A>G MANE Select	NP_997229.2:n.*114A>G