Canonical Allele Identifier: CA173712

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75523332C>T , CM000679.2:g.75523332C>T	GRCh38
NC_000017.10:g.73519413C>T , CM000679.1:g.73519413C>T	GRCh37
NC_000017.9:g.71031008C>T	NCBI36
NG_013041.1:g.11805C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_207346.3:c.1310C>T MANE Select	NP_997229.2:p.Ala437Val
ENST00000333213.11:c.1310C>T MANE Select	ENSP00000327487.6:p.Ala437Val
NM_207346.2:c.1310C>T	NP_997229.2:p.Ala437Val
ENST00000333213.10:c.1310C>T	ENSP00000327487.6:p.Ala437Val
ENST00000434205.8:c.1007C>T	ENSP00000406559.4:p.Ala336Val
ENST00000545228.2:c.587C>T
ENST00000545228.3:c.1498C>T	ENSP00000438169.3:p.Pro500Ser
ENST00000577197.2:n.181C>T
ENST00000579449.1:n.507C>T
ENST00000579449.2:n.2050C>T
ENST00000580013.6:n.2454C>T
ENST00000679370.1:n.2832C>T
ENST00000679429.1:c.*768C>T	ENSP00000505403.1:n.*768C>T
ENST00000679443.1:n.1379C>T
ENST00000679782.1:c.*9C>T	ENSP00000505995.1:n.*9C>T
ENST00000679919.1:n.1581C>T
ENST00000679928.1:c.*1862C>T	ENSP00000506071.1:n.*1862C>T
ENST00000680528.1:n.2276C>T
ENST00000680999.1:c.1523C>T	ENSP00000504984.1:p.Ala508Val
ENST00000681282.1:c.*1497C>T	ENSP00000506339.1:n.*1497C>T
XM_005257229.2:c.1498C>T	XP_005257286.1:p.Pro500Ser
XM_005257229.4:c.1498C>T	XP_005257286.1:p.Pro500Ser
XM_006721821.2:c.1195C>T	XP_006721884.1:p.Pro399Ser
XM_011524616.1:c.1498C>T	XP_011522918.1:p.Pro500Ser
XM_011524617.1:c.*9C>T	XP_011522919.1:n.*9C>T
XM_011524618.1:c.1310C>T	XP_011522920.1:p.Ala437Val
XR_001753015.1:n.124G>A
XR_001753016.1:n.161G>A
XR_243646.2:n.1542C>T
XR_243646.4:n.1548C>T