Canonical Allele Identifier: CA501819456

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520406C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524325C>A , CM000679.2:g.75524325C>A	GRCh38
NC_000017.10:g.73520406C>A , CM000679.1:g.73520406C>A	GRCh37
NC_000017.9:g.71032001C>A	NCBI36
NG_013041.1:g.12798C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1494C>A MANE Select	ENSP00000327487.6:p.Val498=
ENST00000434205.8:c.1191C>A	ENSP00000406559.4:p.Val397=
ENST00000545228.3:c.1682C>A	ENSP00000438169.3:p.Ser561Tyr
ENST00000577197.2:n.692C>A
ENST00000579449.2:n.2234C>A
ENST00000580013.6:n.2638C>A
ENST00000679370.1:n.3016C>A
ENST00000679429.1:c.*952C>A	ENSP00000505403.1:n.*952C>A
ENST00000679443.1:n.1563C>A
ENST00000679782.1:c.*193C>A	ENSP00000505995.1:n.*193C>A
ENST00000679919.1:n.1765C>A
ENST00000679928.1:c.*2046C>A	ENSP00000506071.1:n.*2046C>A
ENST00000680528.1:n.2460C>A
ENST00000680999.1:c.1707C>A	ENSP00000504984.1:p.Val569=
ENST00000681282.1:c.*1681C>A	ENSP00000506339.1:n.*1681C>A
ENST00000333213.10:c.1494C>A	ENSP00000327487.6:p.Val498=
ENST00000545228.2:c.771C>A
ENST00000577197.1:n.242C>A
ENST00000579449.1:n.691C>A
NM_207346.2:c.1494C>A	NP_997229.2:p.Val498=
XM_005257229.2:c.1682C>A	XP_005257286.1:p.Ser561Tyr
XM_006721821.2:c.1379C>A	XP_006721884.1:p.Ser460Tyr
XM_011524616.1:c.1565C>A	XP_011522918.1:p.Ser522Tyr
XM_011524617.1:c.*76C>A	XP_011522919.1:n.*76C>A
XM_011524618.1:c.1377C>A	XP_011522920.1:p.Val459=
XR_243646.2:n.1726C>A
XM_005257229.4:c.1682C>A	XP_005257286.1:p.Ser561Tyr
XR_001753015.1:n.73G>T
XR_001753016.1:n.74G>T
XR_243646.4:n.1732C>A
NM_207346.3:c.1494C>A MANE Select	NP_997229.2:p.Val498=