Canonical Allele Identifier: CA401031131

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 1493366
• ClinVar RCV Id: RCV001984317
• dbSNP Id: rs2147019398
• MyVariant Identifiers: chr17:g.73520374C>G (hg19) ; chr17:g.75524293C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1462C>G MANE Select	ENSP00000327487.6:p.Leu488Val
ENST00000434205.8:c.1159C>G	ENSP00000406559.4:p.Leu387Val
ENST00000545228.3:c.1650C>G	ENSP00000438169.3:p.Ala550=
ENST00000577197.2:n.660C>G
ENST00000579449.2:n.2202C>G
ENST00000580013.6:n.2606C>G
ENST00000679370.1:n.2984C>G
ENST00000679429.1:c.*920C>G	ENSP00000505403.1:n.*920C>G
ENST00000679443.1:n.1531C>G
ENST00000679782.1:c.*161C>G	ENSP00000505995.1:n.*161C>G
ENST00000679919.1:n.1733C>G
ENST00000679928.1:c.*2014C>G	ENSP00000506071.1:n.*2014C>G
ENST00000680528.1:n.2428C>G
ENST00000680999.1:c.1675C>G	ENSP00000504984.1:p.Leu559Val
ENST00000681282.1:c.*1649C>G	ENSP00000506339.1:n.*1649C>G
ENST00000333213.10:c.1462C>G	ENSP00000327487.6:p.Leu488Val
ENST00000545228.2:c.739C>G
ENST00000577197.1:n.210C>G
ENST00000579449.1:n.659C>G
NM_207346.2:c.1462C>G	NP_997229.2:p.Leu488Val
XM_005257229.2:c.1650C>G	XP_005257286.1:p.Ala550=
XM_006721821.2:c.1347C>G	XP_006721884.1:p.Ala449=
XM_011524616.1:c.1533C>G	XP_011522918.1:p.Ala511=
XM_011524617.1:c.*44C>G	XP_011522919.1:n.*44C>G
XM_011524618.1:c.1345C>G	XP_011522920.1:p.Leu449Val
XR_243646.2:n.1694C>G
XM_005257229.4:c.1650C>G	XP_005257286.1:p.Ala550=
XR_001753015.1:n.87+18G>C
XR_001753016.1:n.88+18G>C
XR_243646.4:n.1700C>G
NM_207346.3:c.1462C>G MANE Select	NP_997229.2:p.Leu488Val