Canonical Allele Identifier: CA8764202

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 595320
• ClinVar RCV Id: RCV000730838
• dbSNP Id: rs113016401
• ExAC: 17:73517505 G / A
• gnomAD v2: 17-73517505-G-A
• gnomAD v3: 17-75521424-G-A
• gnomAD v4: 17-75521424-G-A
• MyVariant Identifiers: chr17:g.73517505G>A (hg19) ; chr17:g.75521424G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521424G>A , CM000679.2:g.75521424G>A	GRCh38
NC_000017.10:g.73517505G>A , CM000679.1:g.73517505G>A	GRCh37
NC_000017.9:g.71029100G>A	NCBI36
NG_013041.1:g.9897G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.537G>A MANE Select	ENSP00000327487.6:p.Pro179=
ENST00000434205.8:c.234G>A	ENSP00000406559.4:p.Pro78=
ENST00000545228.3:c.537G>A	ENSP00000438169.3:p.Pro179=
ENST00000579449.2:n.336G>A
ENST00000580013.6:n.546G>A
ENST00000583818.2:c.591G>A	ENSP00000461928.2:n.591G>A
ENST00000679370.1:n.924G>A
ENST00000679429.1:c.529G>A	ENSP00000505403.1:p.Val177Ile
ENST00000679443.1:n.412G>A
ENST00000679782.1:c.537G>A	ENSP00000505995.1:p.Pro179=
ENST00000679919.1:n.412G>A
ENST00000679928.1:c.*148G>A	ENSP00000506071.1:n.*148G>A
ENST00000680528.1:n.562G>A
ENST00000680999.1:c.537G>A	ENSP00000504984.1:p.Pro179=
ENST00000681282.1:c.537G>A	ENSP00000506339.1:p.Pro179=
ENST00000333213.10:c.537G>A	ENSP00000327487.6:p.Pro179=
ENST00000578415.1:c.497G>A
ENST00000580013.5:n.554G>A
ENST00000583173.5:c.372G>A	ENSP00000463619.1:p.Pro124=
ENST00000583818.1:c.486G>A	ENSP00000461928.1:n.486G>A
NM_207346.2:c.537G>A	NP_997229.2:p.Pro179=
XM_005257229.2:c.537G>A	XP_005257286.1:p.Pro179=
XM_006721821.2:c.234G>A	XP_006721884.1:p.Pro78=
XM_011524616.1:c.537G>A	XP_011522918.1:p.Pro179=
XM_011524617.1:c.537G>A	XP_011522919.1:p.Pro179=
XM_011524618.1:c.537G>A	XP_011522920.1:p.Pro179=
XR_243646.2:n.567G>A
XM_005257229.4:c.537G>A	XP_005257286.1:p.Pro179=
XR_243646.4:n.573G>A
NM_207346.3:c.537G>A MANE Select	NP_997229.2:p.Pro179=