Canonical Allele Identifier: CA401031032

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520347G>T (hg19) ; chr17:g.75524266G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524266G>T , CM000679.2:g.75524266G>T	GRCh38
NC_000017.10:g.73520347G>T , CM000679.1:g.73520347G>T	GRCh37
NC_000017.9:g.71031942G>T	NCBI36
NG_013041.1:g.12739G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1435G>T MANE Select	ENSP00000327487.6:p.Asp479Tyr
ENST00000434205.8:c.1132G>T	ENSP00000406559.4:p.Asp378Tyr
ENST00000545228.3:c.1623G>T	ENSP00000438169.3:p.Leu541Phe
ENST00000577197.2:n.633G>T
ENST00000579449.2:n.2175G>T
ENST00000580013.6:n.2579G>T
ENST00000679370.1:n.2957G>T
ENST00000679429.1:c.*893G>T	ENSP00000505403.1:n.*893G>T
ENST00000679443.1:n.1504G>T
ENST00000679782.1:c.*134G>T	ENSP00000505995.1:n.*134G>T
ENST00000679919.1:n.1706G>T
ENST00000679928.1:c.*1987G>T	ENSP00000506071.1:n.*1987G>T
ENST00000680528.1:n.2401G>T
ENST00000680999.1:c.1648G>T	ENSP00000504984.1:p.Asp550Tyr
ENST00000681282.1:c.*1622G>T	ENSP00000506339.1:n.*1622G>T
ENST00000333213.10:c.1435G>T	ENSP00000327487.6:p.Asp479Tyr
ENST00000545228.2:c.712G>T
ENST00000577197.1:n.183G>T
ENST00000579449.1:n.632G>T
NM_207346.2:c.1435G>T	NP_997229.2:p.Asp479Tyr
XM_005257229.2:c.1623G>T	XP_005257286.1:p.Leu541Phe
XM_006721821.2:c.1320G>T	XP_006721884.1:p.Leu440Phe
XM_011524616.1:c.1506G>T	XP_011522918.1:p.Leu502Phe
XM_011524617.1:c.*17G>T	XP_011522919.1:n.*17G>T
XM_011524618.1:c.1318G>T	XP_011522920.1:p.Asp440Tyr
XR_243646.2:n.1667G>T
XM_005257229.4:c.1623G>T	XP_005257286.1:p.Leu541Phe
XR_001753015.1:n.87+45C>A
XR_001753016.1:n.88+45C>A
XR_243646.4:n.1673G>T
NM_207346.3:c.1435G>T MANE Select	NP_997229.2:p.Asp479Tyr