Canonical Allele Identifier: CA401031306

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520423T>A (hg19) ; chr17:g.75524342T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524342T>A , CM000679.2:g.75524342T>A	GRCh38
NC_000017.10:g.73520423T>A , CM000679.1:g.73520423T>A	GRCh37
NC_000017.9:g.71032018T>A	NCBI36
NG_013041.1:g.12815T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1511T>A MANE Select	ENSP00000327487.6:p.Leu504Gln
ENST00000434205.8:c.1208T>A	ENSP00000406559.4:p.Leu403Gln
ENST00000545228.3:c.*10T>A	ENSP00000438169.3:n.*10T>A
ENST00000577197.2:n.709T>A
ENST00000579449.2:n.2251T>A
ENST00000580013.6:n.2655T>A
ENST00000679370.1:n.3033T>A
ENST00000679429.1:c.*969T>A	ENSP00000505403.1:n.*969T>A
ENST00000679443.1:n.1580T>A
ENST00000679782.1:c.*210T>A	ENSP00000505995.1:n.*210T>A
ENST00000679919.1:n.1782T>A
ENST00000679928.1:c.*2063T>A	ENSP00000506071.1:n.*2063T>A
ENST00000680528.1:n.2477T>A
ENST00000680999.1:c.1724T>A	ENSP00000504984.1:p.Leu575Gln
ENST00000681282.1:c.*1698T>A	ENSP00000506339.1:n.*1698T>A
ENST00000333213.10:c.1511T>A	ENSP00000327487.6:p.Leu504Gln
ENST00000545228.2:c.788T>A
ENST00000577197.1:n.259T>A
ENST00000579449.1:n.708T>A
NM_207346.2:c.1511T>A	NP_997229.2:p.Leu504Gln
XM_005257229.2:c.*10T>A	XP_005257286.1:n.*10T>A
XM_006721821.2:c.*10T>A	XP_006721884.1:n.*10T>A
XM_011524616.1:c.*10T>A	XP_011522918.1:n.*10T>A
XM_011524617.1:c.*93T>A	XP_011522919.1:n.*93T>A
XM_011524618.1:c.1394T>A	XP_011522920.1:p.Leu465Gln
XR_243646.2:n.1743T>A
XM_005257229.4:c.*10T>A	XP_005257286.1:n.*10T>A
XR_001753015.1:n.56A>T
XR_001753016.1:n.57A>T
XR_243646.4:n.1749T>A
NM_207346.3:c.1511T>A MANE Select	NP_997229.2:p.Leu504Gln