Canonical Allele Identifier: CA294075209

Gene: TSEN54

Linked Data

• dbSNP Id: rs184586821
• gnomAD v2: 17-73512233-C-T
• gnomAD v3: 17-75516152-C-T
• gnomAD v4: 17-75516152-C-T
• MyVariant Identifiers: chr17:g.73512233C>T (hg19) ; chr17:g.75516152C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516152C>T , CM000679.2:g.75516152C>T	GRCh38
NC_000017.10:g.73512233C>T , CM000679.1:g.73512233C>T	GRCh37
NC_000017.9:g.71023828C>T	NCBI36
NG_013041.1:g.4625C>T
NG_033152.1:g.4432G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434205.8:c.-317C>T	ENSP00000406559.4:n.-317C>T
ENST00000679370.1:n.209C>T
ENST00000434205.7:c.-317C>T	ENSP00000406559.3:n.-317C>T
XM_006721821.2:c.-482C>T	XP_006721884.1:n.-482C>T