Canonical Allele Identifier: CA2639835379

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75516530-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516530G>A , CM000679.2:g.75516530G>A	GRCh38
NC_000017.10:g.73512611G>A , CM000679.1:g.73512611G>A	GRCh37
NC_000017.9:g.71024206G>A	NCBI36
NG_013041.1:g.5003G>A
NG_033152.1:g.4054C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.-31G>A MANE Select	ENSP00000327487.6:n.-31G>A
ENST00000434205.8:c.-83+144G>A	ENSP00000406559.4:n.-83+144G>A
ENST00000679370.1:n.443+144G>A
ENST00000681282.1:c.-31G>A	ENSP00000506339.1:n.-31G>A
ENST00000333213.10:c.-31G>A	ENSP00000327487.6:n.-31G>A
ENST00000434205.7:c.-83+144G>A	ENSP00000406559.3:n.-83+144G>A
ENST00000583454.1:n.5G>A
NM_207346.2:c.-31G>A	NP_997229.2:n.-31G>A
XM_006721821.2:c.-248+144G>A	XP_006721884.1:n.-248+144G>A
XM_005257229.4:c.-31G>A	XP_005257286.1:n.-31G>A
XR_243646.4:n.6G>A
NM_207346.3:c.-31G>A MANE Select	NP_997229.2:n.-31G>A