Canonical Allele Identifier: CA501819485

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520412G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524331G>A , CM000679.2:g.75524331G>A	GRCh38
NC_000017.10:g.73520412G>A , CM000679.1:g.73520412G>A	GRCh37
NC_000017.9:g.71032007G>A	NCBI36
NG_013041.1:g.12804G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1500G>A MANE Select	ENSP00000327487.6:p.Leu500=
ENST00000434205.8:c.1197G>A	ENSP00000406559.4:p.Leu399=
ENST00000545228.3:c.1688G>A	ENSP00000438169.3:p.Ter563=
ENST00000577197.2:n.698G>A
ENST00000579449.2:n.2240G>A
ENST00000580013.6:n.2644G>A
ENST00000679370.1:n.3022G>A
ENST00000679429.1:c.*958G>A	ENSP00000505403.1:n.*958G>A
ENST00000679443.1:n.1569G>A
ENST00000679782.1:c.*199G>A	ENSP00000505995.1:n.*199G>A
ENST00000679919.1:n.1771G>A
ENST00000679928.1:c.*2052G>A	ENSP00000506071.1:n.*2052G>A
ENST00000680528.1:n.2466G>A
ENST00000680999.1:c.1713G>A	ENSP00000504984.1:p.Leu571=
ENST00000681282.1:c.*1687G>A	ENSP00000506339.1:n.*1687G>A
ENST00000333213.10:c.1500G>A	ENSP00000327487.6:p.Leu500=
ENST00000545228.2:c.777G>A
ENST00000577197.1:n.248G>A
ENST00000579449.1:n.697G>A
NM_207346.2:c.1500G>A	NP_997229.2:p.Leu500=
XM_005257229.2:c.1688G>A	XP_005257286.1:p.Ter563=
XM_006721821.2:c.1385G>A	XP_006721884.1:p.Ter462=
XM_011524616.1:c.1571G>A	XP_011522918.1:p.Ter524=
XM_011524617.1:c.*82G>A	XP_011522919.1:n.*82G>A
XM_011524618.1:c.1383G>A	XP_011522920.1:p.Leu461=
XR_243646.2:n.1732G>A
XM_005257229.4:c.1688G>A	XP_005257286.1:p.Ter563=
XR_001753015.1:n.67C>T
XR_001753016.1:n.68C>T
XR_243646.4:n.1738G>A
NM_207346.3:c.1500G>A MANE Select	NP_997229.2:p.Leu500=