Canonical Allele Identifier: CA401031431

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520454C>A (hg19) ; chr17:g.75524373C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524373C>A , CM000679.2:g.75524373C>A	GRCh38
NC_000017.10:g.73520454C>A , CM000679.1:g.73520454C>A	GRCh37
NC_000017.9:g.71032049C>A	NCBI36
NG_013041.1:g.12846C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1542C>A MANE Select	ENSP00000327487.6:p.Ser514Arg
ENST00000434205.8:c.1239C>A	ENSP00000406559.4:p.Ser413Arg
ENST00000545228.3:c.*41C>A	ENSP00000438169.3:n.*41C>A
ENST00000577197.2:n.740C>A
ENST00000579449.2:n.2282C>A
ENST00000580013.6:n.2686C>A
ENST00000679370.1:n.3064C>A
ENST00000679429.1:c.*1000C>A	ENSP00000505403.1:n.*1000C>A
ENST00000679443.1:n.1611C>A
ENST00000679782.1:c.*241C>A	ENSP00000505995.1:n.*241C>A
ENST00000679919.1:n.1813C>A
ENST00000679928.1:c.*2094C>A	ENSP00000506071.1:n.*2094C>A
ENST00000680528.1:n.2508C>A
ENST00000680999.1:c.1755C>A	ENSP00000504984.1:p.Ser585Arg
ENST00000681282.1:c.*1729C>A	ENSP00000506339.1:n.*1729C>A
ENST00000333213.10:c.1542C>A	ENSP00000327487.6:p.Ser514Arg
ENST00000545228.2:c.819C>A
ENST00000577197.1:n.290C>A
ENST00000579449.1:n.739C>A
NM_207346.2:c.1542C>A	NP_997229.2:p.Ser514Arg
XM_005257229.2:c.*41C>A	XP_005257286.1:n.*41C>A
XM_006721821.2:c.*41C>A	XP_006721884.1:n.*41C>A
XM_011524616.1:c.*41C>A	XP_011522918.1:n.*41C>A
XM_011524618.1:c.1425C>A	XP_011522920.1:p.Ser475Arg
XR_243646.2:n.1774C>A
XM_005257229.4:c.*41C>A	XP_005257286.1:n.*41C>A
XR_001753015.1:n.25G>T
XR_001753016.1:n.26G>T
XR_243646.4:n.1780C>A
NM_207346.3:c.1542C>A MANE Select	NP_997229.2:p.Ser514Arg