Canonical Allele Identifier: CA2639836619

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75524639-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524639C>A , CM000679.2:g.75524639C>A	GRCh38
NC_000017.10:g.73520720C>A , CM000679.1:g.73520720C>A	GRCh37
NC_000017.9:g.71032315C>A	NCBI36
NG_013041.1:g.13112C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*227C>A MANE Select	ENSP00000327487.6:n.*227C>A
ENST00000434205.8:c.*227C>A	ENSP00000406559.4:n.*227C>A
ENST00000545228.3:c.*307C>A	ENSP00000438169.3:n.*307C>A
ENST00000577197.2:n.1006C>A
ENST00000579449.2:n.2548C>A
ENST00000580013.6:n.2952C>A
ENST00000679370.1:n.3330C>A
ENST00000679429.1:c.*1266C>A	ENSP00000505403.1:n.*1266C>A
ENST00000679443.1:n.1877C>A
ENST00000679782.1:c.*507C>A	ENSP00000505995.1:n.*507C>A
ENST00000679919.1:n.2079C>A
ENST00000679928.1:c.*2360C>A	ENSP00000506071.1:n.*2360C>A
ENST00000680999.1:c.*227C>A	ENSP00000504984.1:n.*227C>A
ENST00000681282.1:c.*1995C>A	ENSP00000506339.1:n.*1995C>A
ENST00000333213.10:c.*227C>A	ENSP00000327487.6:n.*227C>A
ENST00000545228.2:c.1085C>A
ENST00000577197.1:n.556C>A
NM_207346.2:c.*227C>A	NP_997229.2:n.*227C>A
XM_005257229.2:c.*307C>A	XP_005257286.1:n.*307C>A
XM_006721821.2:c.*307C>A	XP_006721884.1:n.*307C>A
XM_011524616.1:c.*307C>A	XP_011522918.1:n.*307C>A
XM_011524618.1:c.*227C>A	XP_011522920.1:n.*227C>A
XR_243646.2:n.2040C>A
XM_005257229.4:c.*307C>A	XP_005257286.1:n.*307C>A
XR_243646.4:n.2046C>A
NM_207346.3:c.*227C>A MANE Select	NP_997229.2:n.*227C>A