Canonical Allele Identifier: CA2639835416

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75516533-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516533G>T , CM000679.2:g.75516533G>T	GRCh38
NC_000017.10:g.73512614G>T , CM000679.1:g.73512614G>T	GRCh37
NC_000017.9:g.71024209G>T	NCBI36
NG_013041.1:g.5006G>T
NG_033152.1:g.4051C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.-28G>T MANE Select	ENSP00000327487.6:n.-28G>T
ENST00000434205.8:c.-83+147G>T	ENSP00000406559.4:n.-83+147G>T
ENST00000679370.1:n.443+147G>T
ENST00000681282.1:c.-28G>T	ENSP00000506339.1:n.-28G>T
ENST00000333213.10:c.-28G>T	ENSP00000327487.6:n.-28G>T
ENST00000434205.7:c.-83+147G>T	ENSP00000406559.3:n.-83+147G>T
ENST00000583454.1:n.8G>T
NM_207346.2:c.-28G>T	NP_997229.2:n.-28G>T
XM_005257229.2:c.-28G>T	XP_005257286.1:n.-28G>T
XM_006721821.2:c.-248+147G>T	XP_006721884.1:n.-248+147G>T
XM_011524616.1:c.-28G>T	XP_011522918.1:n.-28G>T
XM_011524617.1:c.-28G>T	XP_011522919.1:n.-28G>T
XM_011524618.1:c.-28G>T	XP_011522920.1:n.-28G>T
XR_243646.2:n.3G>T
XM_005257229.4:c.-28G>T	XP_005257286.1:n.-28G>T
XR_243646.4:n.9G>T
NM_207346.3:c.-28G>T MANE Select	NP_997229.2:n.-28G>T