Canonical Allele Identifier: CA401031041

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520349T>G (hg19) ; chr17:g.75524268T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524268T>G , CM000679.2:g.75524268T>G	GRCh38
NC_000017.10:g.73520349T>G , CM000679.1:g.73520349T>G	GRCh37
NC_000017.9:g.71031944T>G	NCBI36
NG_013041.1:g.12741T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1437T>G MANE Select	ENSP00000327487.6:p.Asp479Glu
ENST00000434205.8:c.1134T>G	ENSP00000406559.4:p.Asp378Glu
ENST00000545228.3:c.1625T>G	ENSP00000438169.3:p.Met542Arg
ENST00000577197.2:n.635T>G
ENST00000579449.2:n.2177T>G
ENST00000580013.6:n.2581T>G
ENST00000679370.1:n.2959T>G
ENST00000679429.1:c.*895T>G	ENSP00000505403.1:n.*895T>G
ENST00000679443.1:n.1506T>G
ENST00000679782.1:c.*136T>G	ENSP00000505995.1:n.*136T>G
ENST00000679919.1:n.1708T>G
ENST00000679928.1:c.*1989T>G	ENSP00000506071.1:n.*1989T>G
ENST00000680528.1:n.2403T>G
ENST00000680999.1:c.1650T>G	ENSP00000504984.1:p.Asp550Glu
ENST00000681282.1:c.*1624T>G	ENSP00000506339.1:n.*1624T>G
ENST00000333213.10:c.1437T>G	ENSP00000327487.6:p.Asp479Glu
ENST00000545228.2:c.714T>G
ENST00000577197.1:n.185T>G
ENST00000579449.1:n.634T>G
NM_207346.2:c.1437T>G	NP_997229.2:p.Asp479Glu
XM_005257229.2:c.1625T>G	XP_005257286.1:p.Met542Arg
XM_006721821.2:c.1322T>G	XP_006721884.1:p.Met441Arg
XM_011524616.1:c.1508T>G	XP_011522918.1:p.Met503Arg
XM_011524617.1:c.*19T>G	XP_011522919.1:n.*19T>G
XM_011524618.1:c.1320T>G	XP_011522920.1:p.Asp440Glu
XR_243646.2:n.1669T>G
XM_005257229.4:c.1625T>G	XP_005257286.1:p.Met542Arg
XR_001753015.1:n.87+43A>C
XR_001753016.1:n.88+43A>C
XR_243646.4:n.1675T>G
NM_207346.3:c.1437T>G MANE Select	NP_997229.2:p.Asp479Glu