Canonical Allele Identifier: CA2275548077

Gene: TSEN54

Linked Data

• dbSNP Id: rs375529473
• gnomAD v4: 17-75516158-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516158G>C , CM000679.2:g.75516158G>C	GRCh38
NC_000017.10:g.73512239G>C , CM000679.1:g.73512239G>C	GRCh37
NC_000017.9:g.71023834G>C	NCBI36
NG_013041.1:g.4631G>C
NG_033152.1:g.4426C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434205.8:c.-311G>C	ENSP00000406559.4:n.-311G>C
ENST00000679370.1:n.215G>C
ENST00000434205.7:c.-311G>C	ENSP00000406559.3:n.-311G>C
XM_006721821.2:c.-476G>C	XP_006721884.1:n.-476G>C