Canonical Allele Identifier: CA2639836549

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75524609-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524609C>A , CM000679.2:g.75524609C>A	GRCh38
NC_000017.10:g.73520690C>A , CM000679.1:g.73520690C>A	GRCh37
NC_000017.9:g.71032285C>A	NCBI36
NG_013041.1:g.13082C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*197C>A MANE Select	ENSP00000327487.6:n.*197C>A
ENST00000434205.8:c.*197C>A	ENSP00000406559.4:n.*197C>A
ENST00000545228.3:c.*277C>A	ENSP00000438169.3:n.*277C>A
ENST00000577197.2:n.976C>A
ENST00000579449.2:n.2518C>A
ENST00000580013.6:n.2922C>A
ENST00000679370.1:n.3300C>A
ENST00000679429.1:c.*1236C>A	ENSP00000505403.1:n.*1236C>A
ENST00000679443.1:n.1847C>A
ENST00000679782.1:c.*477C>A	ENSP00000505995.1:n.*477C>A
ENST00000679919.1:n.2049C>A
ENST00000679928.1:c.*2330C>A	ENSP00000506071.1:n.*2330C>A
ENST00000680999.1:c.*197C>A	ENSP00000504984.1:n.*197C>A
ENST00000681282.1:c.*1965C>A	ENSP00000506339.1:n.*1965C>A
ENST00000333213.10:c.*197C>A	ENSP00000327487.6:n.*197C>A
ENST00000545228.2:c.1055C>A
ENST00000577197.1:n.526C>A
NM_207346.2:c.*197C>A	NP_997229.2:n.*197C>A
XM_005257229.2:c.*277C>A	XP_005257286.1:n.*277C>A
XM_006721821.2:c.*277C>A	XP_006721884.1:n.*277C>A
XM_011524616.1:c.*277C>A	XP_011522918.1:n.*277C>A
XM_011524618.1:c.*197C>A	XP_011522920.1:n.*197C>A
XR_243646.2:n.2010C>A
XM_005257229.4:c.*277C>A	XP_005257286.1:n.*277C>A
XR_243646.4:n.2016C>A
NM_207346.3:c.*197C>A MANE Select	NP_997229.2:n.*197C>A