Canonical Allele Identifier: CA502045944

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73517858T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521777T>G , CM000679.2:g.75521777T>G	GRCh38
NC_000017.10:g.73517858T>G , CM000679.1:g.73517858T>G	GRCh37
NC_000017.9:g.71029453T>G	NCBI36
NG_013041.1:g.10250T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.696T>G MANE Select	ENSP00000327487.6:p.Pro232=
ENST00000434205.8:c.393T>G	ENSP00000406559.4:p.Pro131=
ENST00000545228.3:c.696T>G	ENSP00000438169.3:p.Pro232=
ENST00000579449.2:n.495T>G
ENST00000580013.6:n.899T>G
ENST00000583818.2:c.750T>G	ENSP00000461928.2:n.750T>G
ENST00000679370.1:n.1277T>G
ENST00000679429.1:c.*154T>G	ENSP00000505403.1:n.*154T>G
ENST00000679443.1:n.765T>G
ENST00000679782.1:c.696T>G	ENSP00000505995.1:p.Pro232=
ENST00000679919.1:n.765T>G
ENST00000679928.1:c.*307T>G	ENSP00000506071.1:n.*307T>G
ENST00000680528.1:n.721T>G
ENST00000680999.1:c.696T>G	ENSP00000504984.1:p.Pro232=
ENST00000681282.1:c.725T>G	ENSP00000506339.1:p.Leu242Arg
ENST00000333213.10:c.696T>G	ENSP00000327487.6:p.Pro232=
ENST00000578415.1:c.656T>G
ENST00000583173.5:c.459-230T>G	ENSP00000463619.1:n.459-230T>G
ENST00000583818.1:c.645T>G	ENSP00000461928.1:n.645T>G
NM_207346.2:c.696T>G	NP_997229.2:p.Pro232=
XM_005257229.2:c.696T>G	XP_005257286.1:p.Pro232=
XM_006721821.2:c.393T>G	XP_006721884.1:p.Pro131=
XM_011524616.1:c.696T>G	XP_011522918.1:p.Pro232=
XM_011524617.1:c.696T>G	XP_011522919.1:p.Pro232=
XM_011524618.1:c.696T>G	XP_011522920.1:p.Pro232=
XR_243646.2:n.726T>G
XM_005257229.4:c.696T>G	XP_005257286.1:p.Pro232=
XR_243646.4:n.732T>G
NM_207346.3:c.696T>G MANE Select	NP_997229.2:p.Pro232=