Canonical Allele Identifier: CA401031346

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520433T>G (hg19) ; chr17:g.75524352T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524352T>G , CM000679.2:g.75524352T>G	GRCh38
NC_000017.10:g.73520433T>G , CM000679.1:g.73520433T>G	GRCh37
NC_000017.9:g.71032028T>G	NCBI36
NG_013041.1:g.12825T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1521T>G MANE Select	ENSP00000327487.6:p.His507Gln
ENST00000434205.8:c.1218T>G	ENSP00000406559.4:p.His406Gln
ENST00000545228.3:c.*20T>G	ENSP00000438169.3:n.*20T>G
ENST00000577197.2:n.719T>G
ENST00000579449.2:n.2261T>G
ENST00000580013.6:n.2665T>G
ENST00000679370.1:n.3043T>G
ENST00000679429.1:c.*979T>G	ENSP00000505403.1:n.*979T>G
ENST00000679443.1:n.1590T>G
ENST00000679782.1:c.*220T>G	ENSP00000505995.1:n.*220T>G
ENST00000679919.1:n.1792T>G
ENST00000679928.1:c.*2073T>G	ENSP00000506071.1:n.*2073T>G
ENST00000680528.1:n.2487T>G
ENST00000680999.1:c.1734T>G	ENSP00000504984.1:p.His578Gln
ENST00000681282.1:c.*1708T>G	ENSP00000506339.1:n.*1708T>G
ENST00000333213.10:c.1521T>G	ENSP00000327487.6:p.His507Gln
ENST00000545228.2:c.798T>G
ENST00000577197.1:n.269T>G
ENST00000579449.1:n.718T>G
NM_207346.2:c.1521T>G	NP_997229.2:p.His507Gln
XM_005257229.2:c.*20T>G	XP_005257286.1:n.*20T>G
XM_006721821.2:c.*20T>G	XP_006721884.1:n.*20T>G
XM_011524616.1:c.*20T>G	XP_011522918.1:n.*20T>G
XM_011524618.1:c.1404T>G	XP_011522920.1:p.His468Gln
XR_243646.2:n.1753T>G
XM_005257229.4:c.*20T>G	XP_005257286.1:n.*20T>G
XR_001753015.1:n.46A>C
XR_001753016.1:n.47A>C
XR_243646.4:n.1759T>G
NM_207346.3:c.1521T>G MANE Select	NP_997229.2:p.His507Gln