Canonical Allele Identifier: CA501819253

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520346T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524265T>C , CM000679.2:g.75524265T>C	GRCh38
NC_000017.10:g.73520346T>C , CM000679.1:g.73520346T>C	GRCh37
NC_000017.9:g.71031941T>C	NCBI36
NG_013041.1:g.12738T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1434T>C MANE Select	ENSP00000327487.6:p.Phe478=
ENST00000434205.8:c.1131T>C	ENSP00000406559.4:p.Phe377=
ENST00000545228.3:c.1622T>C	ENSP00000438169.3:p.Leu541Ser
ENST00000577197.2:n.632T>C
ENST00000579449.2:n.2174T>C
ENST00000580013.6:n.2578T>C
ENST00000679370.1:n.2956T>C
ENST00000679429.1:c.*892T>C	ENSP00000505403.1:n.*892T>C
ENST00000679443.1:n.1503T>C
ENST00000679782.1:c.*133T>C	ENSP00000505995.1:n.*133T>C
ENST00000679919.1:n.1705T>C
ENST00000679928.1:c.*1986T>C	ENSP00000506071.1:n.*1986T>C
ENST00000680528.1:n.2400T>C
ENST00000680999.1:c.1647T>C	ENSP00000504984.1:p.Phe549=
ENST00000681282.1:c.*1621T>C	ENSP00000506339.1:n.*1621T>C
ENST00000333213.10:c.1434T>C	ENSP00000327487.6:p.Phe478=
ENST00000545228.2:c.711T>C
ENST00000577197.1:n.182T>C
ENST00000579449.1:n.631T>C
NM_207346.2:c.1434T>C	NP_997229.2:p.Phe478=
XM_005257229.2:c.1622T>C	XP_005257286.1:p.Leu541Ser
XM_006721821.2:c.1319T>C	XP_006721884.1:p.Leu440Ser
XM_011524616.1:c.1505T>C	XP_011522918.1:p.Leu502Ser
XM_011524617.1:c.*16T>C	XP_011522919.1:n.*16T>C
XM_011524618.1:c.1317T>C	XP_011522920.1:p.Phe439=
XR_243646.2:n.1666T>C
XM_005257229.4:c.1622T>C	XP_005257286.1:p.Leu541Ser
XR_001753015.1:n.87+46A>G
XR_001753016.1:n.88+46A>G
XR_243646.4:n.1672T>C
NM_207346.3:c.1434T>C MANE Select	NP_997229.2:p.Phe478=