Canonical Allele Identifier: CA401031108

Gene: TSEN54

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1456T>G MANE Select	ENSP00000327487.6:p.Cys486Gly
ENST00000434205.8:c.1153T>G	ENSP00000406559.4:p.Cys385Gly
ENST00000545228.3:c.1644T>G	ENSP00000438169.3:p.Ser548=
ENST00000577197.2:n.654T>G
ENST00000579449.2:n.2196T>G
ENST00000580013.6:n.2600T>G
ENST00000679370.1:n.2978T>G
ENST00000679429.1:c.*914T>G	ENSP00000505403.1:n.*914T>G
ENST00000679443.1:n.1525T>G
ENST00000679782.1:c.*155T>G	ENSP00000505995.1:n.*155T>G
ENST00000679919.1:n.1727T>G
ENST00000679928.1:c.*2008T>G	ENSP00000506071.1:n.*2008T>G
ENST00000680528.1:n.2422T>G
ENST00000680999.1:c.1669T>G	ENSP00000504984.1:p.Cys557Gly
ENST00000681282.1:c.*1643T>G	ENSP00000506339.1:n.*1643T>G
ENST00000333213.10:c.1456T>G	ENSP00000327487.6:p.Cys486Gly
ENST00000545228.2:c.733T>G
ENST00000577197.1:n.204T>G
ENST00000579449.1:n.653T>G
NM_207346.2:c.1456T>G	NP_997229.2:p.Cys486Gly
XM_005257229.2:c.1644T>G	XP_005257286.1:p.Ser548=
XM_006721821.2:c.1341T>G	XP_006721884.1:p.Ser447=
XM_011524616.1:c.1527T>G	XP_011522918.1:p.Ser509=
XM_011524617.1:c.*38T>G	XP_011522919.1:n.*38T>G
XM_011524618.1:c.1339T>G	XP_011522920.1:p.Cys447Gly
XR_243646.2:n.1688T>G
XM_005257229.4:c.1644T>G	XP_005257286.1:p.Ser548=
XR_001753015.1:n.87+24A>C
XR_001753016.1:n.88+24A>C
XR_243646.4:n.1694T>G
NM_207346.3:c.1456T>G MANE Select	NP_997229.2:p.Cys486Gly