Canonical Allele Identifier: CA775072507

Gene: TSEN54

Linked Data

• dbSNP Id: rs1197309337
• MyVariant Identifiers: chr17:g.73512470G>C (hg19) ; chr17:g.75516389G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516389G>C , CM000679.2:g.75516389G>C	GRCh38
NC_000017.10:g.73512470G>C , CM000679.1:g.73512470G>C	GRCh37
NC_000017.9:g.71024065G>C	NCBI36
NG_013041.1:g.4862G>C
NG_033152.1:g.4195C>G

Transcript Alleles

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