Canonical Allele Identifier: CA2639834695

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75516408-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516408A>C , CM000679.2:g.75516408A>C	GRCh38
NC_000017.10:g.73512489A>C , CM000679.1:g.73512489A>C	GRCh37
NC_000017.9:g.71024084A>C	NCBI36
NG_013041.1:g.4881A>C
NG_033152.1:g.4176T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434205.8:c.-83+22A>C	ENSP00000406559.4:n.-83+22A>C
ENST00000679370.1:n.443+22A>C
ENST00000434205.7:c.-83+22A>C	ENSP00000406559.3:n.-83+22A>C
XM_006721821.2:c.-248+22A>C	XP_006721884.1:n.-248+22A>C