Canonical Allele Identifier: CA294079292

Gene: TSEN54

Linked Data

• dbSNP Id: rs1041372316
• MyVariant Identifiers: chr17:g.73518164T>A (hg19) ; chr17:g.75522083T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75522083T>A , CM000679.2:g.75522083T>A	GRCh38
NC_000017.10:g.73518164T>A , CM000679.1:g.73518164T>A	GRCh37
NC_000017.9:g.71029759T>A	NCBI36
NG_013041.1:g.10556T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1002T>A MANE Select	ENSP00000327487.6:p.Ala334=
ENST00000434205.8:c.699T>A	ENSP00000406559.4:p.Ala233=
ENST00000545228.3:c.1002T>A	ENSP00000438169.3:p.Ala334=
ENST00000579449.2:n.801T>A
ENST00000580013.6:n.1205T>A
ENST00000679370.1:n.1583T>A
ENST00000679429.1:c.*460T>A	ENSP00000505403.1:n.*460T>A
ENST00000679443.1:n.1071T>A
ENST00000679782.1:c.1002T>A	ENSP00000505995.1:p.Ala334=
ENST00000679919.1:n.1071T>A
ENST00000679928.1:c.*613T>A	ENSP00000506071.1:n.*613T>A
ENST00000680528.1:n.1027T>A
ENST00000680999.1:c.1002T>A	ENSP00000504984.1:p.Ala334=
ENST00000681282.1:c.*248T>A	ENSP00000506339.1:n.*248T>A
ENST00000333213.10:c.1002T>A	ENSP00000327487.6:p.Ala334=
ENST00000545228.2:c.91T>A
ENST00000578415.1:c.962T>A
ENST00000583173.5:c.535T>A	ENSP00000463619.1:p.Ter179Arg
NM_207346.2:c.1002T>A	NP_997229.2:p.Ala334=
XM_005257229.2:c.1002T>A	XP_005257286.1:p.Ala334=
XM_006721821.2:c.699T>A	XP_006721884.1:p.Ala233=
XM_011524616.1:c.1002T>A	XP_011522918.1:p.Ala334=
XM_011524617.1:c.1002T>A	XP_011522919.1:p.Ala334=
XM_011524618.1:c.1002T>A	XP_011522920.1:p.Ala334=
XR_243646.2:n.1032T>A
XM_005257229.4:c.1002T>A	XP_005257286.1:p.Ala334=
XR_243646.4:n.1038T>A
NM_207346.3:c.1002T>A MANE Select	NP_997229.2:p.Ala334=