Canonical Allele Identifier: CA502046228

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73518122A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75522041A>T , CM000679.2:g.75522041A>T	GRCh38
NC_000017.10:g.73518122A>T , CM000679.1:g.73518122A>T	GRCh37
NC_000017.9:g.71029717A>T	NCBI36
NG_013041.1:g.10514A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.960A>T MANE Select	ENSP00000327487.6:p.Pro320=
ENST00000434205.8:c.657A>T	ENSP00000406559.4:p.Pro219=
ENST00000545228.3:c.960A>T	ENSP00000438169.3:p.Pro320=
ENST00000579449.2:n.759A>T
ENST00000580013.6:n.1163A>T
ENST00000679370.1:n.1541A>T
ENST00000679429.1:c.*418A>T	ENSP00000505403.1:n.*418A>T
ENST00000679443.1:n.1029A>T
ENST00000679782.1:c.960A>T	ENSP00000505995.1:p.Pro320=
ENST00000679919.1:n.1029A>T
ENST00000679928.1:c.*571A>T	ENSP00000506071.1:n.*571A>T
ENST00000680528.1:n.985A>T
ENST00000680999.1:c.960A>T	ENSP00000504984.1:p.Pro320=
ENST00000681282.1:c.*206A>T	ENSP00000506339.1:n.*206A>T
ENST00000333213.10:c.960A>T	ENSP00000327487.6:p.Pro320=
ENST00000545228.2:c.49A>T
ENST00000578415.1:c.920A>T
ENST00000583173.5:c.493A>T	ENSP00000463619.1:p.Arg165Ter
NM_207346.2:c.960A>T	NP_997229.2:p.Pro320=
XM_005257229.2:c.960A>T	XP_005257286.1:p.Pro320=
XM_006721821.2:c.657A>T	XP_006721884.1:p.Pro219=
XM_011524616.1:c.960A>T	XP_011522918.1:p.Pro320=
XM_011524617.1:c.960A>T	XP_011522919.1:p.Pro320=
XM_011524618.1:c.960A>T	XP_011522920.1:p.Pro320=
XR_243646.2:n.990A>T
XM_005257229.4:c.960A>T	XP_005257286.1:p.Pro320=
XR_243646.4:n.996A>T
NM_207346.3:c.960A>T MANE Select	NP_997229.2:p.Pro320=