Canonical Allele Identifier: CA502046077

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 2772404
• ClinVar RCV Id: RCV003576683
• MyVariant Identifiers: chr17:g.73517918G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521837G>A , CM000679.2:g.75521837G>A	GRCh38
NC_000017.10:g.73517918G>A , CM000679.1:g.73517918G>A	GRCh37
NC_000017.9:g.71029513G>A	NCBI36
NG_013041.1:g.10310G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000333213.11:c.756G>A MANE Select	ENSP00000327487.6:p.Lys252=
ENST00000434205.8:c.453G>A	ENSP00000406559.4:p.Lys151=
ENST00000545228.3:c.756G>A	ENSP00000438169.3:p.Lys252=
ENST00000579449.2:n.555G>A
ENST00000580013.6:n.959G>A
ENST00000583818.2:c.810G>A	ENSP00000461928.2:n.810G>A
ENST00000679370.1:n.1337G>A
ENST00000679429.1:c.*214G>A	ENSP00000505403.1:n.*214G>A
ENST00000679443.1:n.825G>A
ENST00000679782.1:c.756G>A	ENSP00000505995.1:p.Lys252=
ENST00000679919.1:n.825G>A
ENST00000679928.1:c.*367G>A	ENSP00000506071.1:n.*367G>A
ENST00000680528.1:n.781G>A
ENST00000680999.1:c.756G>A	ENSP00000504984.1:p.Lys252=
ENST00000681282.1:c.*2G>A	ENSP00000506339.1:n.*2G>A
ENST00000333213.10:c.756G>A	ENSP00000327487.6:p.Lys252=
ENST00000578415.1:c.716G>A
ENST00000583173.5:c.459-170G>A	ENSP00000463619.1:n.459-170G>A
ENST00000583818.1:c.705G>A	ENSP00000461928.1:n.705G>A
NM_207346.2:c.756G>A	NP_997229.2:p.Lys252=
XM_005257229.2:c.756G>A	XP_005257286.1:p.Lys252=
XM_006721821.2:c.453G>A	XP_006721884.1:p.Lys151=
XM_011524616.1:c.756G>A	XP_011522918.1:p.Lys252=
XM_011524617.1:c.756G>A	XP_011522919.1:p.Lys252=
XM_011524618.1:c.756G>A	XP_011522920.1:p.Lys252=
XR_243646.2:n.786G>A
XM_005257229.4:c.756G>A	XP_005257286.1:p.Lys252=
XR_243646.4:n.792G>A
NM_207346.3:c.756G>A MANE Select	NP_997229.2:p.Lys252=