Canonical Allele Identifier: CA2275552593

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524380G= , CM000679.2:g.75524380G=	GRCh38
NC_000017.10:g.73520461G= , CM000679.1:g.73520461G=	GRCh37
NC_000017.9:g.71032056G=	NCBI36
NG_013041.1:g.12853G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1549G= MANE Select	ENSP00000327487.6:p.Asp517=
ENST00000434205.8:c.1246G=	ENSP00000406559.4:p.Asp416=
ENST00000545228.3:c.*48G=	ENSP00000438169.3:n.*48G=
ENST00000577197.2:n.747G=
ENST00000579449.2:n.2289G=
ENST00000580013.6:n.2693G=
ENST00000679370.1:n.3071G=
ENST00000679429.1:c.*1007G=	ENSP00000505403.1:n.*1007G=
ENST00000679443.1:n.1618G=
ENST00000679782.1:c.*248G=	ENSP00000505995.1:n.*248G=
ENST00000679919.1:n.1820G=
ENST00000679928.1:c.*2101G=	ENSP00000506071.1:n.*2101G=
ENST00000680528.1:n.2515G=
ENST00000680999.1:c.1762G=	ENSP00000504984.1:p.Asp588=
ENST00000681282.1:c.*1736G=	ENSP00000506339.1:n.*1736G=
ENST00000333213.10:c.1549G=	ENSP00000327487.6:p.Asp517=
ENST00000545228.2:c.826G=
ENST00000577197.1:n.297G=
ENST00000579449.1:n.746G=
NM_207346.2:c.1549G=	NP_997229.2:p.Asp517=
XM_005257229.2:c.*48G=	XP_005257286.1:n.*48G=
XM_006721821.2:c.*48G=	XP_006721884.1:n.*48G=
XM_011524616.1:c.*48G=	XP_011522918.1:n.*48G=
XM_011524618.1:c.1432G=	XP_011522920.1:p.Asp478=
XR_243646.2:n.1781G=
XM_005257229.4:c.*48G=	XP_005257286.1:n.*48G=
XR_001753015.1:n.18C=
XR_001753016.1:n.19C=
XR_243646.4:n.1787G=
NM_207346.3:c.1549G= MANE Select	NP_997229.2:p.Asp517=