Canonical Allele Identifier: CA294075233

Gene: TSEN54

Linked Data

• dbSNP Id: rs370362788
• gnomAD v2: 17-73512325-C-G
• gnomAD v3: 17-75516244-C-G
• gnomAD v4: 17-75516244-C-G
• MyVariant Identifiers: chr17:g.73512325C>G (hg19) ; chr17:g.75516244C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516244C>G , CM000679.2:g.75516244C>G	GRCh38
NC_000017.10:g.73512325C>G , CM000679.1:g.73512325C>G	GRCh37
NC_000017.9:g.71023920C>G	NCBI36
NG_013041.1:g.4717C>G
NG_033152.1:g.4340G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434205.8:c.-225C>G	ENSP00000406559.4:n.-225C>G
ENST00000679370.1:n.301C>G
ENST00000434205.7:c.-225C>G	ENSP00000406559.3:n.-225C>G
XM_006721821.2:c.-390C>G	XP_006721884.1:n.-390C>G