Canonical Allele Identifier: CA401031531

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520486G>T (hg19) ; chr17:g.75524405G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524405G>T , CM000679.2:g.75524405G>T	GRCh38
NC_000017.10:g.73520486G>T , CM000679.1:g.73520486G>T	GRCh37
NC_000017.9:g.71032081G>T	NCBI36
NG_013041.1:g.12878G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1574G>T MANE Select	ENSP00000327487.6:p.Gly525Val
ENST00000434205.8:c.1271G>T	ENSP00000406559.4:p.Gly424Val
ENST00000545228.3:c.*73G>T	ENSP00000438169.3:n.*73G>T
ENST00000577197.2:n.772G>T
ENST00000579449.2:n.2314G>T
ENST00000580013.6:n.2718G>T
ENST00000679370.1:n.3096G>T
ENST00000679429.1:c.*1032G>T	ENSP00000505403.1:n.*1032G>T
ENST00000679443.1:n.1643G>T
ENST00000679782.1:c.*273G>T	ENSP00000505995.1:n.*273G>T
ENST00000679919.1:n.1845G>T
ENST00000679928.1:c.*2126G>T	ENSP00000506071.1:n.*2126G>T
ENST00000680528.1:n.2540G>T
ENST00000680999.1:c.1787G>T	ENSP00000504984.1:p.Gly596Val
ENST00000681282.1:c.*1761G>T	ENSP00000506339.1:n.*1761G>T
ENST00000333213.10:c.1574G>T	ENSP00000327487.6:p.Gly525Val
ENST00000545228.2:c.851G>T
ENST00000577197.1:n.322G>T
ENST00000579449.1:n.771G>T
NM_207346.2:c.1574G>T	NP_997229.2:p.Gly525Val
XM_005257229.2:c.*73G>T	XP_005257286.1:n.*73G>T
XM_006721821.2:c.*73G>T	XP_006721884.1:n.*73G>T
XM_011524616.1:c.*73G>T	XP_011522918.1:n.*73G>T
XM_011524618.1:c.1457G>T	XP_011522920.1:p.Gly486Val
XR_243646.2:n.1806G>T
XM_005257229.4:c.*73G>T	XP_005257286.1:n.*73G>T
XR_243646.4:n.1812G>T
NM_207346.3:c.1574G>T MANE Select	NP_997229.2:p.Gly525Val