Canonical Allele Identifier: CA501819310

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520361A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524280A>T , CM000679.2:g.75524280A>T	GRCh38
NC_000017.10:g.73520361A>T , CM000679.1:g.73520361A>T	GRCh37
NC_000017.9:g.71031956A>T	NCBI36
NG_013041.1:g.12753A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1449A>T MANE Select	ENSP00000327487.6:p.Pro483=
ENST00000434205.8:c.1146A>T	ENSP00000406559.4:p.Pro382=
ENST00000545228.3:c.1637A>T	ENSP00000438169.3:p.Gln546Leu
ENST00000577197.2:n.647A>T
ENST00000579449.2:n.2189A>T
ENST00000580013.6:n.2593A>T
ENST00000679370.1:n.2971A>T
ENST00000679429.1:c.*907A>T	ENSP00000505403.1:n.*907A>T
ENST00000679443.1:n.1518A>T
ENST00000679782.1:c.*148A>T	ENSP00000505995.1:n.*148A>T
ENST00000679919.1:n.1720A>T
ENST00000679928.1:c.*2001A>T	ENSP00000506071.1:n.*2001A>T
ENST00000680528.1:n.2415A>T
ENST00000680999.1:c.1662A>T	ENSP00000504984.1:p.Pro554=
ENST00000681282.1:c.*1636A>T	ENSP00000506339.1:n.*1636A>T
ENST00000333213.10:c.1449A>T	ENSP00000327487.6:p.Pro483=
ENST00000545228.2:c.726A>T
ENST00000577197.1:n.197A>T
ENST00000579449.1:n.646A>T
NM_207346.2:c.1449A>T	NP_997229.2:p.Pro483=
XM_005257229.2:c.1637A>T	XP_005257286.1:p.Gln546Leu
XM_006721821.2:c.1334A>T	XP_006721884.1:p.Gln445Leu
XM_011524616.1:c.1520A>T	XP_011522918.1:p.Gln507Leu
XM_011524617.1:c.*31A>T	XP_011522919.1:n.*31A>T
XM_011524618.1:c.1332A>T	XP_011522920.1:p.Pro444=
XR_243646.2:n.1681A>T
XM_005257229.4:c.1637A>T	XP_005257286.1:p.Gln546Leu
XR_001753015.1:n.87+31T>A
XR_001753016.1:n.88+31T>A
XR_243646.4:n.1687A>T
NM_207346.3:c.1449A>T MANE Select	NP_997229.2:p.Pro483=