Canonical Allele Identifier: CA401031137

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520375T>G (hg19) ; chr17:g.75524294T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524294T>G , CM000679.2:g.75524294T>G	GRCh38
NC_000017.10:g.73520375T>G , CM000679.1:g.73520375T>G	GRCh37
NC_000017.9:g.71031970T>G	NCBI36
NG_013041.1:g.12767T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1463T>G MANE Select	ENSP00000327487.6:p.Leu488Arg
ENST00000434205.8:c.1160T>G	ENSP00000406559.4:p.Leu387Arg
ENST00000545228.3:c.1651T>G	ENSP00000438169.3:p.Ser551Ala
ENST00000577197.2:n.661T>G
ENST00000579449.2:n.2203T>G
ENST00000580013.6:n.2607T>G
ENST00000679370.1:n.2985T>G
ENST00000679429.1:c.*921T>G	ENSP00000505403.1:n.*921T>G
ENST00000679443.1:n.1532T>G
ENST00000679782.1:c.*162T>G	ENSP00000505995.1:n.*162T>G
ENST00000679919.1:n.1734T>G
ENST00000679928.1:c.*2015T>G	ENSP00000506071.1:n.*2015T>G
ENST00000680528.1:n.2429T>G
ENST00000680999.1:c.1676T>G	ENSP00000504984.1:p.Leu559Arg
ENST00000681282.1:c.*1650T>G	ENSP00000506339.1:n.*1650T>G
ENST00000333213.10:c.1463T>G	ENSP00000327487.6:p.Leu488Arg
ENST00000545228.2:c.740T>G
ENST00000577197.1:n.211T>G
ENST00000579449.1:n.660T>G
NM_207346.2:c.1463T>G	NP_997229.2:p.Leu488Arg
XM_005257229.2:c.1651T>G	XP_005257286.1:p.Ser551Ala
XM_006721821.2:c.1348T>G	XP_006721884.1:p.Ser450Ala
XM_011524616.1:c.1534T>G	XP_011522918.1:p.Ser512Ala
XM_011524617.1:c.*45T>G	XP_011522919.1:n.*45T>G
XM_011524618.1:c.1346T>G	XP_011522920.1:p.Leu449Arg
XR_243646.2:n.1695T>G
XM_005257229.4:c.1651T>G	XP_005257286.1:p.Ser551Ala
XR_001753015.1:n.87+17A>C
XR_001753016.1:n.88+17A>C
XR_243646.4:n.1701T>G
NM_207346.3:c.1463T>G MANE Select	NP_997229.2:p.Leu488Arg