Canonical Allele Identifier: CA401031130

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520374C>A (hg19) ; chr17:g.75524293C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524293C>A , CM000679.2:g.75524293C>A	GRCh38
NC_000017.10:g.73520374C>A , CM000679.1:g.73520374C>A	GRCh37
NC_000017.9:g.71031969C>A	NCBI36
NG_013041.1:g.12766C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1462C>A MANE Select	ENSP00000327487.6:p.Leu488Ile
ENST00000434205.8:c.1159C>A	ENSP00000406559.4:p.Leu387Ile
ENST00000545228.3:c.1650C>A	ENSP00000438169.3:p.Ala550=
ENST00000577197.2:n.660C>A
ENST00000579449.2:n.2202C>A
ENST00000580013.6:n.2606C>A
ENST00000679370.1:n.2984C>A
ENST00000679429.1:c.*920C>A	ENSP00000505403.1:n.*920C>A
ENST00000679443.1:n.1531C>A
ENST00000679782.1:c.*161C>A	ENSP00000505995.1:n.*161C>A
ENST00000679919.1:n.1733C>A
ENST00000679928.1:c.*2014C>A	ENSP00000506071.1:n.*2014C>A
ENST00000680528.1:n.2428C>A
ENST00000680999.1:c.1675C>A	ENSP00000504984.1:p.Leu559Ile
ENST00000681282.1:c.*1649C>A	ENSP00000506339.1:n.*1649C>A
ENST00000333213.10:c.1462C>A	ENSP00000327487.6:p.Leu488Ile
ENST00000545228.2:c.739C>A
ENST00000577197.1:n.210C>A
ENST00000579449.1:n.659C>A
NM_207346.2:c.1462C>A	NP_997229.2:p.Leu488Ile
XM_005257229.2:c.1650C>A	XP_005257286.1:p.Ala550=
XM_006721821.2:c.1347C>A	XP_006721884.1:p.Ala449=
XM_011524616.1:c.1533C>A	XP_011522918.1:p.Ala511=
XM_011524617.1:c.*44C>A	XP_011522919.1:n.*44C>A
XM_011524618.1:c.1345C>A	XP_011522920.1:p.Leu449Ile
XR_243646.2:n.1694C>A
XM_005257229.4:c.1650C>A	XP_005257286.1:p.Ala550=
XR_001753015.1:n.87+18G>T
XR_001753016.1:n.88+18G>T
XR_243646.4:n.1700C>A
NM_207346.3:c.1462C>A MANE Select	NP_997229.2:p.Leu488Ile