Canonical Allele Identifier: CA502045939

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 2769078
• ClinVar RCV Id: RCV003576674
• MyVariant Identifiers: chr17:g.73517855A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521774A>G , CM000679.2:g.75521774A>G	GRCh38
NC_000017.10:g.73517855A>G , CM000679.1:g.73517855A>G	GRCh37
NC_000017.9:g.71029450A>G	NCBI36
NG_013041.1:g.10247A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.693A>G MANE Select	ENSP00000327487.6:p.Pro231=
ENST00000434205.8:c.390A>G	ENSP00000406559.4:p.Pro130=
ENST00000545228.3:c.693A>G	ENSP00000438169.3:p.Pro231=
ENST00000579449.2:n.492A>G
ENST00000580013.6:n.896A>G
ENST00000583818.2:c.747A>G	ENSP00000461928.2:n.747A>G
ENST00000679370.1:n.1274A>G
ENST00000679429.1:c.*151A>G	ENSP00000505403.1:n.*151A>G
ENST00000679443.1:n.762A>G
ENST00000679782.1:c.693A>G	ENSP00000505995.1:p.Pro231=
ENST00000679919.1:n.762A>G
ENST00000679928.1:c.*304A>G	ENSP00000506071.1:n.*304A>G
ENST00000680528.1:n.718A>G
ENST00000680999.1:c.693A>G	ENSP00000504984.1:p.Pro231=
ENST00000681282.1:c.722A>G	ENSP00000506339.1:p.His241Arg
ENST00000333213.10:c.693A>G	ENSP00000327487.6:p.Pro231=
ENST00000578415.1:c.653A>G
ENST00000583173.5:c.459-233A>G	ENSP00000463619.1:n.459-233A>G
ENST00000583818.1:c.642A>G	ENSP00000461928.1:n.642A>G
NM_207346.2:c.693A>G	NP_997229.2:p.Pro231=
XM_005257229.2:c.693A>G	XP_005257286.1:p.Pro231=
XM_006721821.2:c.390A>G	XP_006721884.1:p.Pro130=
XM_011524616.1:c.693A>G	XP_011522918.1:p.Pro231=
XM_011524617.1:c.693A>G	XP_011522919.1:p.Pro231=
XM_011524618.1:c.693A>G	XP_011522920.1:p.Pro231=
XR_243646.2:n.723A>G
XM_005257229.4:c.693A>G	XP_005257286.1:p.Pro231=
XR_243646.4:n.729A>G
NM_207346.3:c.693A>G MANE Select	NP_997229.2:p.Pro231=