Canonical Allele Identifier: CA401031176

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520387C>T (hg19) ; chr17:g.75524306C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524306C>T , CM000679.2:g.75524306C>T	GRCh38
NC_000017.10:g.73520387C>T , CM000679.1:g.73520387C>T	GRCh37
NC_000017.9:g.71031982C>T	NCBI36
NG_013041.1:g.12779C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1475C>T MANE Select	ENSP00000327487.6:p.Ser492Phe
ENST00000434205.8:c.1172C>T	ENSP00000406559.4:p.Ser391Phe
ENST00000545228.3:c.1663C>T	ENSP00000438169.3:p.Leu555Phe
ENST00000577197.2:n.673C>T
ENST00000579449.2:n.2215C>T
ENST00000580013.6:n.2619C>T
ENST00000679370.1:n.2997C>T
ENST00000679429.1:c.*933C>T	ENSP00000505403.1:n.*933C>T
ENST00000679443.1:n.1544C>T
ENST00000679782.1:c.*174C>T	ENSP00000505995.1:n.*174C>T
ENST00000679919.1:n.1746C>T
ENST00000679928.1:c.*2027C>T	ENSP00000506071.1:n.*2027C>T
ENST00000680528.1:n.2441C>T
ENST00000680999.1:c.1688C>T	ENSP00000504984.1:p.Ser563Phe
ENST00000681282.1:c.*1662C>T	ENSP00000506339.1:n.*1662C>T
ENST00000333213.10:c.1475C>T	ENSP00000327487.6:p.Ser492Phe
ENST00000545228.2:c.752C>T
ENST00000577197.1:n.223C>T
ENST00000579449.1:n.672C>T
NM_207346.2:c.1475C>T	NP_997229.2:p.Ser492Phe
XM_005257229.2:c.1663C>T	XP_005257286.1:p.Leu555Phe
XM_006721821.2:c.1360C>T	XP_006721884.1:p.Leu454Phe
XM_011524616.1:c.1546C>T	XP_011522918.1:p.Leu516Phe
XM_011524617.1:c.*57C>T	XP_011522919.1:n.*57C>T
XM_011524618.1:c.1358C>T	XP_011522920.1:p.Ser453Phe
XR_243646.2:n.1707C>T
XM_005257229.4:c.1663C>T	XP_005257286.1:p.Leu555Phe
XR_001753015.1:n.87+5G>A
XR_001753016.1:n.88+5G>A
XR_243646.4:n.1713C>T
NM_207346.3:c.1475C>T MANE Select	NP_997229.2:p.Ser492Phe