Canonical Allele Identifier: CA401031038

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520348A>T (hg19) ; chr17:g.75524267A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524267A>T , CM000679.2:g.75524267A>T	GRCh38
NC_000017.10:g.73520348A>T , CM000679.1:g.73520348A>T	GRCh37
NC_000017.9:g.71031943A>T	NCBI36
NG_013041.1:g.12740A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1436A>T MANE Select	ENSP00000327487.6:p.Asp479Val
ENST00000434205.8:c.1133A>T	ENSP00000406559.4:p.Asp378Val
ENST00000545228.3:c.1624A>T	ENSP00000438169.3:p.Met542Leu
ENST00000577197.2:n.634A>T
ENST00000579449.2:n.2176A>T
ENST00000580013.6:n.2580A>T
ENST00000679370.1:n.2958A>T
ENST00000679429.1:c.*894A>T	ENSP00000505403.1:n.*894A>T
ENST00000679443.1:n.1505A>T
ENST00000679782.1:c.*135A>T	ENSP00000505995.1:n.*135A>T
ENST00000679919.1:n.1707A>T
ENST00000679928.1:c.*1988A>T	ENSP00000506071.1:n.*1988A>T
ENST00000680528.1:n.2402A>T
ENST00000680999.1:c.1649A>T	ENSP00000504984.1:p.Asp550Val
ENST00000681282.1:c.*1623A>T	ENSP00000506339.1:n.*1623A>T
ENST00000333213.10:c.1436A>T	ENSP00000327487.6:p.Asp479Val
ENST00000545228.2:c.713A>T
ENST00000577197.1:n.184A>T
ENST00000579449.1:n.633A>T
NM_207346.2:c.1436A>T	NP_997229.2:p.Asp479Val
XM_005257229.2:c.1624A>T	XP_005257286.1:p.Met542Leu
XM_006721821.2:c.1321A>T	XP_006721884.1:p.Met441Leu
XM_011524616.1:c.1507A>T	XP_011522918.1:p.Met503Leu
XM_011524617.1:c.*18A>T	XP_011522919.1:n.*18A>T
XM_011524618.1:c.1319A>T	XP_011522920.1:p.Asp440Val
XR_243646.2:n.1668A>T
XM_005257229.4:c.1624A>T	XP_005257286.1:p.Met542Leu
XR_001753015.1:n.87+44T>A
XR_001753016.1:n.88+44T>A
XR_243646.4:n.1674A>T
NM_207346.3:c.1436A>T MANE Select	NP_997229.2:p.Asp479Val