Canonical Allele Identifier: CA14411118

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 667570
• ClinVar RCV Id: RCV000826340
• dbSNP Id: rs62088461
• gnomAD v2: 17-73512305-A-G
• gnomAD v3: 17-75516224-A-G
• gnomAD v4: 17-75516224-A-G
• MyVariant Identifiers: chr17:g.73512305A>G (hg19) ; chr17:g.75516224A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516224A>G , CM000679.2:g.75516224A>G	GRCh38
NC_000017.10:g.73512305A>G , CM000679.1:g.73512305A>G	GRCh37
NC_000017.9:g.71023900A>G	NCBI36
NG_013041.1:g.4697A>G
NG_033152.1:g.4360T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434205.8:c.-245A>G	ENSP00000406559.4:n.-245A>G
ENST00000679370.1:n.281A>G
ENST00000434205.7:c.-245A>G	ENSP00000406559.3:n.-245A>G
XM_006721821.2:c.-410A>G	XP_006721884.1:n.-410A>G