Canonical Allele Identifier: CA986330562

Gene: TSEN54

Linked Data

• dbSNP Id: rs2053365375
• gnomAD v3: 17-75516434-A-C
• gnomAD v4: 17-75516434-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516434A>C , CM000679.2:g.75516434A>C	GRCh38
NC_000017.10:g.73512515A>C , CM000679.1:g.73512515A>C	GRCh37
NC_000017.9:g.71024110A>C	NCBI36
NG_013041.1:g.4907A>C
NG_033152.1:g.4150T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434205.8:c.-83+48A>C	ENSP00000406559.4:n.-83+48A>C
ENST00000679370.1:n.443+48A>C
ENST00000434205.7:c.-83+48A>C	ENSP00000406559.3:n.-83+48A>C
XM_006721821.2:c.-248+48A>C	XP_006721884.1:n.-248+48A>C