Canonical Allele Identifier: CA401031048

Gene: TSEN54

Linked Data

• dbSNP Id: rs769529029
• MyVariant Identifiers: chr17:g.73520351A>C (hg19) ; chr17:g.75524270A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524270A>C , CM000679.2:g.75524270A>C	GRCh38
NC_000017.10:g.73520351A>C , CM000679.1:g.73520351A>C	GRCh37
NC_000017.9:g.71031946A>C	NCBI36
NG_013041.1:g.12743A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1439A>C MANE Select	ENSP00000327487.6:p.Glu480Ala
ENST00000434205.8:c.1136A>C	ENSP00000406559.4:p.Glu379Ala
ENST00000545228.3:c.1627A>C	ENSP00000438169.3:p.Ser543Arg
ENST00000577197.2:n.637A>C
ENST00000579449.2:n.2179A>C
ENST00000580013.6:n.2583A>C
ENST00000679370.1:n.2961A>C
ENST00000679429.1:c.*897A>C	ENSP00000505403.1:n.*897A>C
ENST00000679443.1:n.1508A>C
ENST00000679782.1:c.*138A>C	ENSP00000505995.1:n.*138A>C
ENST00000679919.1:n.1710A>C
ENST00000679928.1:c.*1991A>C	ENSP00000506071.1:n.*1991A>C
ENST00000680528.1:n.2405A>C
ENST00000680999.1:c.1652A>C	ENSP00000504984.1:p.Glu551Ala
ENST00000681282.1:c.*1626A>C	ENSP00000506339.1:n.*1626A>C
ENST00000333213.10:c.1439A>C	ENSP00000327487.6:p.Glu480Ala
ENST00000545228.2:c.716A>C
ENST00000577197.1:n.187A>C
ENST00000579449.1:n.636A>C
NM_207346.2:c.1439A>C	NP_997229.2:p.Glu480Ala
XM_005257229.2:c.1627A>C	XP_005257286.1:p.Ser543Arg
XM_006721821.2:c.1324A>C	XP_006721884.1:p.Ser442Arg
XM_011524616.1:c.1510A>C	XP_011522918.1:p.Ser504Arg
XM_011524617.1:c.*21A>C	XP_011522919.1:n.*21A>C
XM_011524618.1:c.1322A>C	XP_011522920.1:p.Glu441Ala
XR_243646.2:n.1671A>C
XM_005257229.4:c.1627A>C	XP_005257286.1:p.Ser543Arg
XR_001753015.1:n.87+41T>G
XR_001753016.1:n.88+41T>G
XR_243646.4:n.1677A>C
NM_207346.3:c.1439A>C MANE Select	NP_997229.2:p.Glu480Ala