Canonical Allele Identifier: CA060062

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.[75517064T>C;75522000G>T] , CM000679.2:g.[75517064T>C;75522000G>T]	GRCh38
NC_000017.10:g.[73513145T>C;73518081G>T] , CM000679.1:g.[73513145T>C;73518081G>T]	GRCh37
NC_000017.9:g.[71024740T>C;71029676G>T]	NCBI36
NG_013041.1:g.[5537T>C;10473G>T]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.[277T>C;919G>T] MANE Select	ENSP00000327487.6:p.[Ser93Pro;Ala307Ser]
ENST00000434205.8:c.[-27T>C;616G>T]	ENSP00000406559.4:p.Ala206Ser
ENST00000545228.3:c.[277T>C;919G>T]	ENSP00000438169.3:p.[Ser93Pro;Ala307Ser]
ENST00000579449.2:n.[76T>C;718G>T]
ENST00000580013.6:n.[286T>C;1122G>T]
ENST00000679370.1:n.[664T>C;1500G>T]
ENST00000679429.1:c.[277T>C;*377G>T]	ENSP00000505403.1:[p.Ser93Pro;n.*377G>T]
ENST00000679443.1:n.[152T>C;988G>T]
ENST00000679782.1:c.[277T>C;919G>T]	ENSP00000505995.1:p.[Ser93Pro;Ala307Ser]
ENST00000679919.1:n.[152T>C;988G>T]
ENST00000679928.1:c.[277T>C;*530G>T]	ENSP00000506071.1:[p.Ser93Pro;n.*530G>T]
ENST00000680528.1:n.[302T>C;944G>T]
ENST00000680999.1:c.[277T>C;919G>T]	ENSP00000504984.1:p.[Ser93Pro;Ala307Ser]
ENST00000681282.1:c.[277T>C;*165G>T]	ENSP00000506339.1:[p.Ser93Pro;n.*165G>T]
ENST00000333213.10:c.[277T>C;919G>T]	ENSP00000327487.6:p.[Ser93Pro;Ala307Ser]
ENST00000578415.1:c.[149T>C;879G>T]
ENST00000583173.5:c.[112T>C;459-7G>T]	ENSP00000463619.1:p.Ser38Pro
NM_207346.2:c.[277T>C;919G>T]	NP_997229.2:p.[Ser93Pro;Ala307Ser]
XM_005257229.2:c.[277T>C;919G>T]	XP_005257286.1:p.[Ser93Pro;Ala307Ser]
XM_006721821.2:c.[-27T>C;616G>T]	XP_006721884.1:p.Ala206Ser
XM_011524616.1:c.[277T>C;919G>T]	XP_011522918.1:p.[Ser93Pro;Ala307Ser]
XM_011524617.1:c.[277T>C;919G>T]	XP_011522919.1:p.[Ser93Pro;Ala307Ser]
XM_011524618.1:c.[277T>C;919G>T]	XP_011522920.1:p.[Ser93Pro;Ala307Ser]
XR_243646.2:n.[307T>C;949G>T]
XM_005257229.4:c.[277T>C;919G>T]	XP_005257286.1:p.[Ser93Pro;Ala307Ser]
XR_243646.4:n.[313T>C;955G>T]
NM_207346.3:c.[277T>C;919G>T] MANE Select	NP_997229.2:p.[Ser93Pro;Ala307Ser]