Canonical Allele Identifier: CA2810443538

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516430G>C , CM000679.2:g.75516430G>C	GRCh38
NC_000017.10:g.73512511G>C , CM000679.1:g.73512511G>C	GRCh37
NC_000017.9:g.71024106G>C	NCBI36
NG_013041.1:g.4903G>C
NG_033152.1:g.4154C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434205.8:c.-83+44G>C	ENSP00000406559.4:n.-83+44G>C
ENST00000679370.1:n.443+44G>C
ENST00000434205.7:c.-83+44G>C	ENSP00000406559.3:n.-83+44G>C
XM_006721821.2:c.-248+44G>C	XP_006721884.1:n.-248+44G>C