Canonical Allele Identifier: CA401031240

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520403T>A (hg19) ; chr17:g.75524322T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524322T>A , CM000679.2:g.75524322T>A	GRCh38
NC_000017.10:g.73520403T>A , CM000679.1:g.73520403T>A	GRCh37
NC_000017.9:g.71031998T>A	NCBI36
NG_013041.1:g.12795T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1491T>A MANE Select	ENSP00000327487.6:p.Asp497Glu
ENST00000434205.8:c.1188T>A	ENSP00000406559.4:p.Asp396Glu
ENST00000545228.3:c.1679T>A	ENSP00000438169.3:p.Met560Lys
ENST00000577197.2:n.689T>A
ENST00000579449.2:n.2231T>A
ENST00000580013.6:n.2635T>A
ENST00000679370.1:n.3013T>A
ENST00000679429.1:c.*949T>A	ENSP00000505403.1:n.*949T>A
ENST00000679443.1:n.1560T>A
ENST00000679782.1:c.*190T>A	ENSP00000505995.1:n.*190T>A
ENST00000679919.1:n.1762T>A
ENST00000679928.1:c.*2043T>A	ENSP00000506071.1:n.*2043T>A
ENST00000680528.1:n.2457T>A
ENST00000680999.1:c.1704T>A	ENSP00000504984.1:p.Asp568Glu
ENST00000681282.1:c.*1678T>A	ENSP00000506339.1:n.*1678T>A
ENST00000333213.10:c.1491T>A	ENSP00000327487.6:p.Asp497Glu
ENST00000545228.2:c.768T>A
ENST00000577197.1:n.239T>A
ENST00000579449.1:n.688T>A
NM_207346.2:c.1491T>A	NP_997229.2:p.Asp497Glu
XM_005257229.2:c.1679T>A	XP_005257286.1:p.Met560Lys
XM_006721821.2:c.1376T>A	XP_006721884.1:p.Met459Lys
XM_011524616.1:c.1562T>A	XP_011522918.1:p.Met521Lys
XM_011524617.1:c.*73T>A	XP_011522919.1:n.*73T>A
XM_011524618.1:c.1374T>A	XP_011522920.1:p.Asp458Glu
XR_243646.2:n.1723T>A
XM_005257229.4:c.1679T>A	XP_005257286.1:p.Met560Lys
XR_001753015.1:n.76A>T
XR_001753016.1:n.77A>T
XR_243646.4:n.1729T>A
NM_207346.3:c.1491T>A MANE Select	NP_997229.2:p.Asp497Glu