Canonical Allele Identifier: CA401031106

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520368T>C (hg19) ; chr17:g.75524287T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524287T>C , CM000679.2:g.75524287T>C	GRCh38
NC_000017.10:g.73520368T>C , CM000679.1:g.73520368T>C	GRCh37
NC_000017.9:g.71031963T>C	NCBI36
NG_013041.1:g.12760T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1456T>C MANE Select	ENSP00000327487.6:p.Cys486Arg
ENST00000434205.8:c.1153T>C	ENSP00000406559.4:p.Cys385Arg
ENST00000545228.3:c.1644T>C	ENSP00000438169.3:p.Ser548=
ENST00000577197.2:n.654T>C
ENST00000579449.2:n.2196T>C
ENST00000580013.6:n.2600T>C
ENST00000679370.1:n.2978T>C
ENST00000679429.1:c.*914T>C	ENSP00000505403.1:n.*914T>C
ENST00000679443.1:n.1525T>C
ENST00000679782.1:c.*155T>C	ENSP00000505995.1:n.*155T>C
ENST00000679919.1:n.1727T>C
ENST00000679928.1:c.*2008T>C	ENSP00000506071.1:n.*2008T>C
ENST00000680528.1:n.2422T>C
ENST00000680999.1:c.1669T>C	ENSP00000504984.1:p.Cys557Arg
ENST00000681282.1:c.*1643T>C	ENSP00000506339.1:n.*1643T>C
ENST00000333213.10:c.1456T>C	ENSP00000327487.6:p.Cys486Arg
ENST00000545228.2:c.733T>C
ENST00000577197.1:n.204T>C
ENST00000579449.1:n.653T>C
NM_207346.2:c.1456T>C	NP_997229.2:p.Cys486Arg
XM_005257229.2:c.1644T>C	XP_005257286.1:p.Ser548=
XM_006721821.2:c.1341T>C	XP_006721884.1:p.Ser447=
XM_011524616.1:c.1527T>C	XP_011522918.1:p.Ser509=
XM_011524617.1:c.*38T>C	XP_011522919.1:n.*38T>C
XM_011524618.1:c.1339T>C	XP_011522920.1:p.Cys447Arg
XR_243646.2:n.1688T>C
XM_005257229.4:c.1644T>C	XP_005257286.1:p.Ser548=
XR_001753015.1:n.87+24A>G
XR_001753016.1:n.88+24A>G
XR_243646.4:n.1694T>C
NM_207346.3:c.1456T>C MANE Select	NP_997229.2:p.Cys486Arg