Canonical Allele Identifier: CA502045858

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73517810C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521729C>G , CM000679.2:g.75521729C>G	GRCh38
NC_000017.10:g.73517810C>G , CM000679.1:g.73517810C>G	GRCh37
NC_000017.9:g.71029405C>G	NCBI36
NG_013041.1:g.10202C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000333213.11:c.648C>G MANE Select	ENSP00000327487.6:p.Ala216=
ENST00000434205.8:c.345C>G	ENSP00000406559.4:p.Ala115=
ENST00000545228.3:c.648C>G	ENSP00000438169.3:p.Ala216=
ENST00000579449.2:n.447C>G
ENST00000580013.6:n.851C>G
ENST00000583818.2:c.702C>G	ENSP00000461928.2:n.702C>G
ENST00000679370.1:n.1229C>G
ENST00000679429.1:c.*106C>G	ENSP00000505403.1:n.*106C>G
ENST00000679443.1:n.717C>G
ENST00000679782.1:c.648C>G	ENSP00000505995.1:p.Ala216=
ENST00000679919.1:n.717C>G
ENST00000679928.1:c.*259C>G	ENSP00000506071.1:n.*259C>G
ENST00000680528.1:n.673C>G
ENST00000680999.1:c.648C>G	ENSP00000504984.1:p.Ala216=
ENST00000681282.1:c.677C>G	ENSP00000506339.1:p.Pro226Arg
ENST00000333213.10:c.648C>G	ENSP00000327487.6:p.Ala216=
ENST00000578415.1:c.608C>G
ENST00000583173.5:c.458+219C>G	ENSP00000463619.1:n.458+219C>G
ENST00000583818.1:c.597C>G	ENSP00000461928.1:n.597C>G
NM_207346.2:c.648C>G	NP_997229.2:p.Ala216=
XM_005257229.2:c.648C>G	XP_005257286.1:p.Ala216=
XM_006721821.2:c.345C>G	XP_006721884.1:p.Ala115=
XM_011524616.1:c.648C>G	XP_011522918.1:p.Ala216=
XM_011524617.1:c.648C>G	XP_011522919.1:p.Ala216=
XM_011524618.1:c.648C>G	XP_011522920.1:p.Ala216=
XR_243646.2:n.678C>G
XM_005257229.4:c.648C>G	XP_005257286.1:p.Ala216=
XR_243646.4:n.684C>G
NM_207346.3:c.648C>G MANE Select	NP_997229.2:p.Ala216=