Canonical Allele Identifier: CA627594311

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 2749063
• ClinVar RCV Id: RCV003566286
• dbSNP Id: rs1169200316
• gnomAD v2: 17-73517473-C-T
• gnomAD v4: 17-75521392-C-T
• MyVariant Identifiers: chr17:g.73517473C>T (hg19) ; chr17:g.75521392C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521392C>T , CM000679.2:g.75521392C>T	GRCh38
NC_000017.10:g.73517473C>T , CM000679.1:g.73517473C>T	GRCh37
NC_000017.9:g.71029068C>T	NCBI36
NG_013041.1:g.9865C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.522-17C>T MANE Select	ENSP00000327487.6:n.522-17C>T
ENST00000434205.8:c.219-17C>T	ENSP00000406559.4:n.219-17C>T
ENST00000545228.3:c.522-17C>T	ENSP00000438169.3:n.522-17C>T
ENST00000579449.2:n.321-17C>T
ENST00000580013.6:n.531-17C>T
ENST00000583818.2:c.559C>T	ENSP00000461928.2:n.559C>T
ENST00000679370.1:n.909-17C>T
ENST00000679429.1:c.514-17C>T	ENSP00000505403.1:n.514-17C>T
ENST00000679443.1:n.397-17C>T
ENST00000679782.1:c.522-17C>T	ENSP00000505995.1:n.522-17C>T
ENST00000679919.1:n.397-17C>T
ENST00000679928.1:c.*133-17C>T	ENSP00000506071.1:n.*133-17C>T
ENST00000680528.1:n.547-17C>T
ENST00000680999.1:c.522-17C>T	ENSP00000504984.1:n.522-17C>T
ENST00000681282.1:c.522-17C>T	ENSP00000506339.1:n.522-17C>T
ENST00000333213.10:c.522-17C>T	ENSP00000327487.6:n.522-17C>T
ENST00000578415.1:c.482-17C>T
ENST00000580013.5:n.539-17C>T
ENST00000583173.5:c.357-17C>T	ENSP00000463619.1:n.357-17C>T
ENST00000583818.1:c.454C>T	ENSP00000461928.1:n.454C>T
NM_207346.2:c.522-17C>T	NP_997229.2:n.522-17C>T
XM_005257229.2:c.522-17C>T	XP_005257286.1:n.522-17C>T
XM_006721821.2:c.219-17C>T	XP_006721884.1:n.219-17C>T
XM_011524616.1:c.522-17C>T	XP_011522918.1:n.522-17C>T
XM_011524617.1:c.522-17C>T	XP_011522919.1:n.522-17C>T
XM_011524618.1:c.522-17C>T	XP_011522920.1:n.522-17C>T
XR_243646.2:n.552-17C>T
XM_005257229.4:c.522-17C>T	XP_005257286.1:n.522-17C>T
XR_243646.4:n.558-17C>T
NM_207346.3:c.522-17C>T MANE Select	NP_997229.2:n.522-17C>T