Canonical Allele Identifier: CA401029587

Gene: TSEN54

Linked Data

• dbSNP Id: rs2053434152
• MyVariant Identifiers: chr17:g.73518145C>T (hg19) ; chr17:g.75522064C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75522064C>T , CM000679.2:g.75522064C>T	GRCh38
NC_000017.10:g.73518145C>T , CM000679.1:g.73518145C>T	GRCh37
NC_000017.9:g.71029740C>T	NCBI36
NG_013041.1:g.10537C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.983C>T MANE Select	ENSP00000327487.6:p.Ala328Val
ENST00000434205.8:c.680C>T	ENSP00000406559.4:p.Ala227Val
ENST00000545228.3:c.983C>T	ENSP00000438169.3:p.Ala328Val
ENST00000579449.2:n.782C>T
ENST00000580013.6:n.1186C>T
ENST00000679370.1:n.1564C>T
ENST00000679429.1:c.*441C>T	ENSP00000505403.1:n.*441C>T
ENST00000679443.1:n.1052C>T
ENST00000679782.1:c.983C>T	ENSP00000505995.1:p.Ala328Val
ENST00000679919.1:n.1052C>T
ENST00000679928.1:c.*594C>T	ENSP00000506071.1:n.*594C>T
ENST00000680528.1:n.1008C>T
ENST00000680999.1:c.983C>T	ENSP00000504984.1:p.Ala328Val
ENST00000681282.1:c.*229C>T	ENSP00000506339.1:n.*229C>T
ENST00000333213.10:c.983C>T	ENSP00000327487.6:p.Ala328Val
ENST00000545228.2:c.72C>T
ENST00000578415.1:c.943C>T
ENST00000583173.5:c.516C>T	ENSP00000463619.1:p.Gly172=
NM_207346.2:c.983C>T	NP_997229.2:p.Ala328Val
XM_005257229.2:c.983C>T	XP_005257286.1:p.Ala328Val
XM_006721821.2:c.680C>T	XP_006721884.1:p.Ala227Val
XM_011524616.1:c.983C>T	XP_011522918.1:p.Ala328Val
XM_011524617.1:c.983C>T	XP_011522919.1:p.Ala328Val
XM_011524618.1:c.983C>T	XP_011522920.1:p.Ala328Val
XR_243646.2:n.1013C>T
XM_005257229.4:c.983C>T	XP_005257286.1:p.Ala328Val
XR_243646.4:n.1019C>T
NM_207346.3:c.983C>T MANE Select	NP_997229.2:p.Ala328Val