Canonical Allele Identifier: CA401031021

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520345T>C (hg19) ; chr17:g.75524264T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524264T>C , CM000679.2:g.75524264T>C	GRCh38
NC_000017.10:g.73520345T>C , CM000679.1:g.73520345T>C	GRCh37
NC_000017.9:g.71031940T>C	NCBI36
NG_013041.1:g.12737T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1433T>C MANE Select	ENSP00000327487.6:p.Phe478Ser
ENST00000434205.8:c.1130T>C	ENSP00000406559.4:p.Phe377Ser
ENST00000545228.3:c.1621T>C	ENSP00000438169.3:p.Leu541=
ENST00000577197.2:n.631T>C
ENST00000579449.2:n.2173T>C
ENST00000580013.6:n.2577T>C
ENST00000679370.1:n.2955T>C
ENST00000679429.1:c.*891T>C	ENSP00000505403.1:n.*891T>C
ENST00000679443.1:n.1502T>C
ENST00000679782.1:c.*132T>C	ENSP00000505995.1:n.*132T>C
ENST00000679919.1:n.1704T>C
ENST00000679928.1:c.*1985T>C	ENSP00000506071.1:n.*1985T>C
ENST00000680528.1:n.2399T>C
ENST00000680999.1:c.1646T>C	ENSP00000504984.1:p.Phe549Ser
ENST00000681282.1:c.*1620T>C	ENSP00000506339.1:n.*1620T>C
ENST00000333213.10:c.1433T>C	ENSP00000327487.6:p.Phe478Ser
ENST00000545228.2:c.710T>C
ENST00000577197.1:n.181T>C
ENST00000579449.1:n.630T>C
NM_207346.2:c.1433T>C	NP_997229.2:p.Phe478Ser
XM_005257229.2:c.1621T>C	XP_005257286.1:p.Leu541=
XM_006721821.2:c.1318T>C	XP_006721884.1:p.Leu440=
XM_011524616.1:c.1504T>C	XP_011522918.1:p.Leu502=
XM_011524617.1:c.*15T>C	XP_011522919.1:n.*15T>C
XM_011524618.1:c.1316T>C	XP_011522920.1:p.Phe439Ser
XR_243646.2:n.1665T>C
XM_005257229.4:c.1621T>C	XP_005257286.1:p.Leu541=
XR_001753015.1:n.87+47A>G
XR_001753016.1:n.88+47A>G
XR_243646.4:n.1671T>C
NM_207346.3:c.1433T>C MANE Select	NP_997229.2:p.Phe478Ser