Canonical Allele Identifier: CA401031093

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520364C>G (hg19) ; chr17:g.75524283C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524283C>G , CM000679.2:g.75524283C>G	GRCh38
NC_000017.10:g.73520364C>G , CM000679.1:g.73520364C>G	GRCh37
NC_000017.9:g.71031959C>G	NCBI36
NG_013041.1:g.12756C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1452C>G MANE Select	ENSP00000327487.6:p.Asp484Glu
ENST00000434205.8:c.1149C>G	ENSP00000406559.4:p.Asp383Glu
ENST00000545228.3:c.1640C>G	ENSP00000438169.3:p.Thr547Ser
ENST00000577197.2:n.650C>G
ENST00000579449.2:n.2192C>G
ENST00000580013.6:n.2596C>G
ENST00000679370.1:n.2974C>G
ENST00000679429.1:c.*910C>G	ENSP00000505403.1:n.*910C>G
ENST00000679443.1:n.1521C>G
ENST00000679782.1:c.*151C>G	ENSP00000505995.1:n.*151C>G
ENST00000679919.1:n.1723C>G
ENST00000679928.1:c.*2004C>G	ENSP00000506071.1:n.*2004C>G
ENST00000680528.1:n.2418C>G
ENST00000680999.1:c.1665C>G	ENSP00000504984.1:p.Asp555Glu
ENST00000681282.1:c.*1639C>G	ENSP00000506339.1:n.*1639C>G
ENST00000333213.10:c.1452C>G	ENSP00000327487.6:p.Asp484Glu
ENST00000545228.2:c.729C>G
ENST00000577197.1:n.200C>G
ENST00000579449.1:n.649C>G
NM_207346.2:c.1452C>G	NP_997229.2:p.Asp484Glu
XM_005257229.2:c.1640C>G	XP_005257286.1:p.Thr547Ser
XM_006721821.2:c.1337C>G	XP_006721884.1:p.Thr446Ser
XM_011524616.1:c.1523C>G	XP_011522918.1:p.Thr508Ser
XM_011524617.1:c.*34C>G	XP_011522919.1:n.*34C>G
XM_011524618.1:c.1335C>G	XP_011522920.1:p.Asp445Glu
XR_243646.2:n.1684C>G
XM_005257229.4:c.1640C>G	XP_005257286.1:p.Thr547Ser
XR_001753015.1:n.87+28G>C
XR_001753016.1:n.88+28G>C
XR_243646.4:n.1690C>G
NM_207346.3:c.1452C>G MANE Select	NP_997229.2:p.Asp484Glu