Canonical Allele Identifier: CA401031333

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520430T>G (hg19) ; chr17:g.75524349T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524349T>G , CM000679.2:g.75524349T>G	GRCh38
NC_000017.10:g.73520430T>G , CM000679.1:g.73520430T>G	GRCh37
NC_000017.9:g.71032025T>G	NCBI36
NG_013041.1:g.12822T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1518T>G MANE Select	ENSP00000327487.6:p.Asp506Glu
ENST00000434205.8:c.1215T>G	ENSP00000406559.4:p.Asp405Glu
ENST00000545228.3:c.*17T>G	ENSP00000438169.3:n.*17T>G
ENST00000577197.2:n.716T>G
ENST00000579449.2:n.2258T>G
ENST00000580013.6:n.2662T>G
ENST00000679370.1:n.3040T>G
ENST00000679429.1:c.*976T>G	ENSP00000505403.1:n.*976T>G
ENST00000679443.1:n.1587T>G
ENST00000679782.1:c.*217T>G	ENSP00000505995.1:n.*217T>G
ENST00000679919.1:n.1789T>G
ENST00000679928.1:c.*2070T>G	ENSP00000506071.1:n.*2070T>G
ENST00000680528.1:n.2484T>G
ENST00000680999.1:c.1731T>G	ENSP00000504984.1:p.Asp577Glu
ENST00000681282.1:c.*1705T>G	ENSP00000506339.1:n.*1705T>G
ENST00000333213.10:c.1518T>G	ENSP00000327487.6:p.Asp506Glu
ENST00000545228.2:c.795T>G
ENST00000577197.1:n.266T>G
ENST00000579449.1:n.715T>G
NM_207346.2:c.1518T>G	NP_997229.2:p.Asp506Glu
XM_005257229.2:c.*17T>G	XP_005257286.1:n.*17T>G
XM_006721821.2:c.*17T>G	XP_006721884.1:n.*17T>G
XM_011524616.1:c.*17T>G	XP_011522918.1:n.*17T>G
XM_011524617.1:c.*100T>G	XP_011522919.1:n.*100T>G
XM_011524618.1:c.1401T>G	XP_011522920.1:p.Asp467Glu
XR_243646.2:n.1750T>G
XM_005257229.4:c.*17T>G	XP_005257286.1:n.*17T>G
XR_001753015.1:n.49A>C
XR_001753016.1:n.50A>C
XR_243646.4:n.1756T>G
NM_207346.3:c.1518T>G MANE Select	NP_997229.2:p.Asp506Glu