Canonical Allele Identifier: CA401031122

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520372G>T (hg19) ; chr17:g.75524291G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524291G>T , CM000679.2:g.75524291G>T	GRCh38
NC_000017.10:g.73520372G>T , CM000679.1:g.73520372G>T	GRCh37
NC_000017.9:g.71031967G>T	NCBI36
NG_013041.1:g.12764G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1460G>T MANE Select	ENSP00000327487.6:p.Ser487Ile
ENST00000434205.8:c.1157G>T	ENSP00000406559.4:p.Ser386Ile
ENST00000545228.3:c.1648G>T	ENSP00000438169.3:p.Ala550Ser
ENST00000577197.2:n.658G>T
ENST00000579449.2:n.2200G>T
ENST00000580013.6:n.2604G>T
ENST00000679370.1:n.2982G>T
ENST00000679429.1:c.*918G>T	ENSP00000505403.1:n.*918G>T
ENST00000679443.1:n.1529G>T
ENST00000679782.1:c.*159G>T	ENSP00000505995.1:n.*159G>T
ENST00000679919.1:n.1731G>T
ENST00000679928.1:c.*2012G>T	ENSP00000506071.1:n.*2012G>T
ENST00000680528.1:n.2426G>T
ENST00000680999.1:c.1673G>T	ENSP00000504984.1:p.Ser558Ile
ENST00000681282.1:c.*1647G>T	ENSP00000506339.1:n.*1647G>T
ENST00000333213.10:c.1460G>T	ENSP00000327487.6:p.Ser487Ile
ENST00000545228.2:c.737G>T
ENST00000577197.1:n.208G>T
ENST00000579449.1:n.657G>T
NM_207346.2:c.1460G>T	NP_997229.2:p.Ser487Ile
XM_005257229.2:c.1648G>T	XP_005257286.1:p.Ala550Ser
XM_006721821.2:c.1345G>T	XP_006721884.1:p.Ala449Ser
XM_011524616.1:c.1531G>T	XP_011522918.1:p.Ala511Ser
XM_011524617.1:c.*42G>T	XP_011522919.1:n.*42G>T
XM_011524618.1:c.1343G>T	XP_011522920.1:p.Ser448Ile
XR_243646.2:n.1692G>T
XM_005257229.4:c.1648G>T	XP_005257286.1:p.Ala550Ser
XR_001753015.1:n.87+20C>A
XR_001753016.1:n.88+20C>A
XR_243646.4:n.1698G>T
NM_207346.3:c.1460G>T MANE Select	NP_997229.2:p.Ser487Ile