Canonical Allele Identifier: CA401031291

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520418T>G (hg19) ; chr17:g.75524337T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524337T>G , CM000679.2:g.75524337T>G	GRCh38
NC_000017.10:g.73520418T>G , CM000679.1:g.73520418T>G	GRCh37
NC_000017.9:g.71032013T>G	NCBI36
NG_013041.1:g.12810T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1506T>G MANE Select	ENSP00000327487.6:p.Phe502Leu
ENST00000434205.8:c.1203T>G	ENSP00000406559.4:p.Phe401Leu
ENST00000545228.3:c.*5T>G	ENSP00000438169.3:n.*5T>G
ENST00000577197.2:n.704T>G
ENST00000579449.2:n.2246T>G
ENST00000580013.6:n.2650T>G
ENST00000679370.1:n.3028T>G
ENST00000679429.1:c.*964T>G	ENSP00000505403.1:n.*964T>G
ENST00000679443.1:n.1575T>G
ENST00000679782.1:c.*205T>G	ENSP00000505995.1:n.*205T>G
ENST00000679919.1:n.1777T>G
ENST00000679928.1:c.*2058T>G	ENSP00000506071.1:n.*2058T>G
ENST00000680528.1:n.2472T>G
ENST00000680999.1:c.1719T>G	ENSP00000504984.1:p.Phe573Leu
ENST00000681282.1:c.*1693T>G	ENSP00000506339.1:n.*1693T>G
ENST00000333213.10:c.1506T>G	ENSP00000327487.6:p.Phe502Leu
ENST00000545228.2:c.783T>G
ENST00000577197.1:n.254T>G
ENST00000579449.1:n.703T>G
NM_207346.2:c.1506T>G	NP_997229.2:p.Phe502Leu
XM_005257229.2:c.*5T>G	XP_005257286.1:n.*5T>G
XM_006721821.2:c.*5T>G	XP_006721884.1:n.*5T>G
XM_011524616.1:c.*5T>G	XP_011522918.1:n.*5T>G
XM_011524617.1:c.*88T>G	XP_011522919.1:n.*88T>G
XM_011524618.1:c.1389T>G	XP_011522920.1:p.Phe463Leu
XR_243646.2:n.1738T>G
XM_005257229.4:c.*5T>G	XP_005257286.1:n.*5T>G
XR_001753015.1:n.61A>C
XR_001753016.1:n.62A>C
XR_243646.4:n.1744T>G
NM_207346.3:c.1506T>G MANE Select	NP_997229.2:p.Phe502Leu