Canonical Allele Identifier: CA2639835374

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75516528-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516528G>C , CM000679.2:g.75516528G>C	GRCh38
NC_000017.10:g.73512609G>C , CM000679.1:g.73512609G>C	GRCh37
NC_000017.9:g.71024204G>C	NCBI36
NG_013041.1:g.5001G>C
NG_033152.1:g.4056C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.-33G>C MANE Select	ENSP00000327487.6:n.-33G>C
ENST00000434205.8:c.-83+142G>C	ENSP00000406559.4:n.-83+142G>C
ENST00000679370.1:n.443+142G>C
ENST00000681282.1:c.-33G>C	ENSP00000506339.1:n.-33G>C
ENST00000333213.10:c.-33G>C	ENSP00000327487.6:n.-33G>C
ENST00000434205.7:c.-83+142G>C	ENSP00000406559.3:n.-83+142G>C
ENST00000583454.1:n.3G>C
NM_207346.2:c.-33G>C	NP_997229.2:n.-33G>C
XM_006721821.2:c.-248+142G>C	XP_006721884.1:n.-248+142G>C
XM_005257229.4:c.-33G>C	XP_005257286.1:n.-33G>C
XR_243646.4:n.4G>C
NM_207346.3:c.-33G>C MANE Select	NP_997229.2:n.-33G>C