Canonical Allele Identifier: CA401031072

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520357T>C (hg19) ; chr17:g.75524276T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524276T>C , CM000679.2:g.75524276T>C	GRCh38
NC_000017.10:g.73520357T>C , CM000679.1:g.73520357T>C	GRCh37
NC_000017.9:g.71031952T>C	NCBI36
NG_013041.1:g.12749T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1445T>C MANE Select	ENSP00000327487.6:p.Val482Ala
ENST00000434205.8:c.1142T>C	ENSP00000406559.4:p.Val381Ala
ENST00000545228.3:c.1633T>C	ENSP00000438169.3:p.Ser545Pro
ENST00000577197.2:n.643T>C
ENST00000579449.2:n.2185T>C
ENST00000580013.6:n.2589T>C
ENST00000679370.1:n.2967T>C
ENST00000679429.1:c.*903T>C	ENSP00000505403.1:n.*903T>C
ENST00000679443.1:n.1514T>C
ENST00000679782.1:c.*144T>C	ENSP00000505995.1:n.*144T>C
ENST00000679919.1:n.1716T>C
ENST00000679928.1:c.*1997T>C	ENSP00000506071.1:n.*1997T>C
ENST00000680528.1:n.2411T>C
ENST00000680999.1:c.1658T>C	ENSP00000504984.1:p.Val553Ala
ENST00000681282.1:c.*1632T>C	ENSP00000506339.1:n.*1632T>C
ENST00000333213.10:c.1445T>C	ENSP00000327487.6:p.Val482Ala
ENST00000545228.2:c.722T>C
ENST00000577197.1:n.193T>C
ENST00000579449.1:n.642T>C
NM_207346.2:c.1445T>C	NP_997229.2:p.Val482Ala
XM_005257229.2:c.1633T>C	XP_005257286.1:p.Ser545Pro
XM_006721821.2:c.1330T>C	XP_006721884.1:p.Ser444Pro
XM_011524616.1:c.1516T>C	XP_011522918.1:p.Ser506Pro
XM_011524617.1:c.*27T>C	XP_011522919.1:n.*27T>C
XM_011524618.1:c.1328T>C	XP_011522920.1:p.Val443Ala
XR_243646.2:n.1677T>C
XM_005257229.4:c.1633T>C	XP_005257286.1:p.Ser545Pro
XR_001753015.1:n.87+35A>G
XR_001753016.1:n.88+35A>G
XR_243646.4:n.1683T>C
NM_207346.3:c.1445T>C MANE Select	NP_997229.2:p.Val482Ala