Canonical Allele Identifier: CA2639836464

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75524580-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524580C>A , CM000679.2:g.75524580C>A	GRCh38
NC_000017.10:g.73520661C>A , CM000679.1:g.73520661C>A	GRCh37
NC_000017.9:g.71032256C>A	NCBI36
NG_013041.1:g.13053C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*168C>A MANE Select	ENSP00000327487.6:n.*168C>A
ENST00000434205.8:c.*168C>A	ENSP00000406559.4:n.*168C>A
ENST00000545228.3:c.*248C>A	ENSP00000438169.3:n.*248C>A
ENST00000577197.2:n.947C>A
ENST00000579449.2:n.2489C>A
ENST00000580013.6:n.2893C>A
ENST00000679370.1:n.3271C>A
ENST00000679429.1:c.*1207C>A	ENSP00000505403.1:n.*1207C>A
ENST00000679443.1:n.1818C>A
ENST00000679782.1:c.*448C>A	ENSP00000505995.1:n.*448C>A
ENST00000679919.1:n.2020C>A
ENST00000679928.1:c.*2301C>A	ENSP00000506071.1:n.*2301C>A
ENST00000680999.1:c.*168C>A	ENSP00000504984.1:n.*168C>A
ENST00000681282.1:c.*1936C>A	ENSP00000506339.1:n.*1936C>A
ENST00000333213.10:c.*168C>A	ENSP00000327487.6:n.*168C>A
ENST00000545228.2:c.1026C>A
ENST00000577197.1:n.497C>A
NM_207346.2:c.*168C>A	NP_997229.2:n.*168C>A
XM_005257229.2:c.*248C>A	XP_005257286.1:n.*248C>A
XM_006721821.2:c.*248C>A	XP_006721884.1:n.*248C>A
XM_011524616.1:c.*248C>A	XP_011522918.1:n.*248C>A
XM_011524618.1:c.*168C>A	XP_011522920.1:n.*168C>A
XR_243646.2:n.1981C>A
XM_005257229.4:c.*248C>A	XP_005257286.1:n.*248C>A
XR_243646.4:n.1987C>A
NM_207346.3:c.*168C>A MANE Select	NP_997229.2:n.*168C>A