Canonical Allele Identifier: CA502046204

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73518113C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75522032C>G , CM000679.2:g.75522032C>G	GRCh38
NC_000017.10:g.73518113C>G , CM000679.1:g.73518113C>G	GRCh37
NC_000017.9:g.71029708C>G	NCBI36
NG_013041.1:g.10505C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.951C>G MANE Select	ENSP00000327487.6:p.Ala317=
ENST00000434205.8:c.648C>G	ENSP00000406559.4:p.Ala216=
ENST00000545228.3:c.951C>G	ENSP00000438169.3:p.Ala317=
ENST00000579449.2:n.750C>G
ENST00000580013.6:n.1154C>G
ENST00000679370.1:n.1532C>G
ENST00000679429.1:c.*409C>G	ENSP00000505403.1:n.*409C>G
ENST00000679443.1:n.1020C>G
ENST00000679782.1:c.951C>G	ENSP00000505995.1:p.Ala317=
ENST00000679919.1:n.1020C>G
ENST00000679928.1:c.*562C>G	ENSP00000506071.1:n.*562C>G
ENST00000680528.1:n.976C>G
ENST00000680999.1:c.951C>G	ENSP00000504984.1:p.Ala317=
ENST00000681282.1:c.*197C>G	ENSP00000506339.1:n.*197C>G
ENST00000333213.10:c.951C>G	ENSP00000327487.6:p.Ala317=
ENST00000545228.2:c.40C>G
ENST00000578415.1:c.911C>G
ENST00000583173.5:c.484C>G	ENSP00000463619.1:p.Pro162Ala
NM_207346.2:c.951C>G	NP_997229.2:p.Ala317=
XM_005257229.2:c.951C>G	XP_005257286.1:p.Ala317=
XM_006721821.2:c.648C>G	XP_006721884.1:p.Ala216=
XM_011524616.1:c.951C>G	XP_011522918.1:p.Ala317=
XM_011524617.1:c.951C>G	XP_011522919.1:p.Ala317=
XM_011524618.1:c.951C>G	XP_011522920.1:p.Ala317=
XR_243646.2:n.981C>G
XM_005257229.4:c.951C>G	XP_005257286.1:p.Ala317=
XR_243646.4:n.987C>G
NM_207346.3:c.951C>G MANE Select	NP_997229.2:p.Ala317=