Canonical Allele Identifier: CA2275551334

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521980A= , CM000679.2:g.75521980A=	GRCh38
NC_000017.10:g.73518061A= , CM000679.1:g.73518061A=	GRCh37
NC_000017.9:g.71029656A=	NCBI36
NG_013041.1:g.10453A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.899A= MANE Select	ENSP00000327487.6:p.Gln300=
ENST00000434205.8:c.596A=	ENSP00000406559.4:p.Gln199=
ENST00000545228.3:c.899A=	ENSP00000438169.3:p.Gln300=
ENST00000579449.2:n.698A=
ENST00000580013.6:n.1102A=
ENST00000679370.1:n.1480A=
ENST00000679429.1:c.*357A=	ENSP00000505403.1:n.*357A=
ENST00000679443.1:n.968A=
ENST00000679782.1:c.899A=	ENSP00000505995.1:p.Gln300=
ENST00000679919.1:n.968A=
ENST00000679928.1:c.*510A=	ENSP00000506071.1:n.*510A=
ENST00000680528.1:n.924A=
ENST00000680999.1:c.899A=	ENSP00000504984.1:p.Gln300=
ENST00000681282.1:c.*145A=	ENSP00000506339.1:n.*145A=
ENST00000333213.10:c.899A=	ENSP00000327487.6:p.Gln300=
ENST00000578415.1:c.859A=
ENST00000583173.5:c.459-27A=	ENSP00000463619.1:n.459-27A=
NM_207346.2:c.899A=	NP_997229.2:p.Gln300=
XM_005257229.2:c.899A=	XP_005257286.1:p.Gln300=
XM_006721821.2:c.596A=	XP_006721884.1:p.Gln199=
XM_011524616.1:c.899A=	XP_011522918.1:p.Gln300=
XM_011524617.1:c.899A=	XP_011522919.1:p.Gln300=
XM_011524618.1:c.899A=	XP_011522920.1:p.Gln300=
XR_243646.2:n.929A=
XM_005257229.4:c.899A=	XP_005257286.1:p.Gln300=
XR_243646.4:n.935A=
NM_207346.3:c.899A= MANE Select	NP_997229.2:p.Gln300=