Canonical Allele Identifier: CA501819400

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520388T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524307T>G , CM000679.2:g.75524307T>G	GRCh38
NC_000017.10:g.73520388T>G , CM000679.1:g.73520388T>G	GRCh37
NC_000017.9:g.71031983T>G	NCBI36
NG_013041.1:g.12780T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1476T>G MANE Select	ENSP00000327487.6:p.Ser492=
ENST00000434205.8:c.1173T>G	ENSP00000406559.4:p.Ser391=
ENST00000545228.3:c.1664T>G	ENSP00000438169.3:p.Leu555Arg
ENST00000577197.2:n.674T>G
ENST00000579449.2:n.2216T>G
ENST00000580013.6:n.2620T>G
ENST00000679370.1:n.2998T>G
ENST00000679429.1:c.*934T>G	ENSP00000505403.1:n.*934T>G
ENST00000679443.1:n.1545T>G
ENST00000679782.1:c.*175T>G	ENSP00000505995.1:n.*175T>G
ENST00000679919.1:n.1747T>G
ENST00000679928.1:c.*2028T>G	ENSP00000506071.1:n.*2028T>G
ENST00000680528.1:n.2442T>G
ENST00000680999.1:c.1689T>G	ENSP00000504984.1:p.Ser563=
ENST00000681282.1:c.*1663T>G	ENSP00000506339.1:n.*1663T>G
ENST00000333213.10:c.1476T>G	ENSP00000327487.6:p.Ser492=
ENST00000545228.2:c.753T>G
ENST00000577197.1:n.224T>G
ENST00000579449.1:n.673T>G
NM_207346.2:c.1476T>G	NP_997229.2:p.Ser492=
XM_005257229.2:c.1664T>G	XP_005257286.1:p.Leu555Arg
XM_006721821.2:c.1361T>G	XP_006721884.1:p.Leu454Arg
XM_011524616.1:c.1547T>G	XP_011522918.1:p.Leu516Arg
XM_011524617.1:c.*58T>G	XP_011522919.1:n.*58T>G
XM_011524618.1:c.1359T>G	XP_011522920.1:p.Ser453=
XR_243646.2:n.1708T>G
XM_005257229.4:c.1664T>G	XP_005257286.1:p.Leu555Arg
XR_001753015.1:n.87+4A>C
XR_001753016.1:n.88+4A>C
XR_243646.4:n.1714T>G
NM_207346.3:c.1476T>G MANE Select	NP_997229.2:p.Ser492=