Canonical Allele Identifier: CA502045803

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 2754997
• ClinVar RCV Id: RCV003564131
• MyVariant Identifiers: chr17:g.73517987G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521906G>A , CM000679.2:g.75521906G>A	GRCh38
NC_000017.10:g.73517987G>A , CM000679.1:g.73517987G>A	GRCh37
NC_000017.9:g.71029582G>A	NCBI36
NG_013041.1:g.10379G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000333213.11:c.825G>A MANE Select	ENSP00000327487.6:p.Val275=
ENST00000434205.8:c.522G>A	ENSP00000406559.4:p.Val174=
ENST00000545228.3:c.825G>A	ENSP00000438169.3:p.Val275=
ENST00000579449.2:n.624G>A
ENST00000580013.6:n.1028G>A
ENST00000679370.1:n.1406G>A
ENST00000679429.1:c.*283G>A	ENSP00000505403.1:n.*283G>A
ENST00000679443.1:n.894G>A
ENST00000679782.1:c.825G>A	ENSP00000505995.1:p.Val275=
ENST00000679919.1:n.894G>A
ENST00000679928.1:c.*436G>A	ENSP00000506071.1:n.*436G>A
ENST00000680528.1:n.850G>A
ENST00000680999.1:c.825G>A	ENSP00000504984.1:p.Val275=
ENST00000681282.1:c.*71G>A	ENSP00000506339.1:n.*71G>A
ENST00000333213.10:c.825G>A	ENSP00000327487.6:p.Val275=
ENST00000578415.1:c.785G>A
ENST00000583173.5:c.459-101G>A	ENSP00000463619.1:n.459-101G>A
NM_207346.2:c.825G>A	NP_997229.2:p.Val275=
XM_005257229.2:c.825G>A	XP_005257286.1:p.Val275=
XM_006721821.2:c.522G>A	XP_006721884.1:p.Val174=
XM_011524616.1:c.825G>A	XP_011522918.1:p.Val275=
XM_011524617.1:c.825G>A	XP_011522919.1:p.Val275=
XM_011524618.1:c.825G>A	XP_011522920.1:p.Val275=
XR_243646.2:n.855G>A
XM_005257229.4:c.825G>A	XP_005257286.1:p.Val275=
XR_243646.4:n.861G>A
NM_207346.3:c.825G>A MANE Select	NP_997229.2:p.Val275=