Canonical Allele Identifier: CA401031020

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75524264-T-A
• MyVariant Identifiers: chr17:g.73520345T>A (hg19) ; chr17:g.75524264T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524264T>A , CM000679.2:g.75524264T>A	GRCh38
NC_000017.10:g.73520345T>A , CM000679.1:g.73520345T>A	GRCh37
NC_000017.9:g.71031940T>A	NCBI36
NG_013041.1:g.12737T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1433T>A MANE Select	ENSP00000327487.6:p.Phe478Tyr
ENST00000434205.8:c.1130T>A	ENSP00000406559.4:p.Phe377Tyr
ENST00000545228.3:c.1621T>A	ENSP00000438169.3:p.Leu541Met
ENST00000577197.2:n.631T>A
ENST00000579449.2:n.2173T>A
ENST00000580013.6:n.2577T>A
ENST00000679370.1:n.2955T>A
ENST00000679429.1:c.*891T>A	ENSP00000505403.1:n.*891T>A
ENST00000679443.1:n.1502T>A
ENST00000679782.1:c.*132T>A	ENSP00000505995.1:n.*132T>A
ENST00000679919.1:n.1704T>A
ENST00000679928.1:c.*1985T>A	ENSP00000506071.1:n.*1985T>A
ENST00000680528.1:n.2399T>A
ENST00000680999.1:c.1646T>A	ENSP00000504984.1:p.Phe549Tyr
ENST00000681282.1:c.*1620T>A	ENSP00000506339.1:n.*1620T>A
ENST00000333213.10:c.1433T>A	ENSP00000327487.6:p.Phe478Tyr
ENST00000545228.2:c.710T>A
ENST00000577197.1:n.181T>A
ENST00000579449.1:n.630T>A
NM_207346.2:c.1433T>A	NP_997229.2:p.Phe478Tyr
XM_005257229.2:c.1621T>A	XP_005257286.1:p.Leu541Met
XM_006721821.2:c.1318T>A	XP_006721884.1:p.Leu440Met
XM_011524616.1:c.1504T>A	XP_011522918.1:p.Leu502Met
XM_011524617.1:c.*15T>A	XP_011522919.1:n.*15T>A
XM_011524618.1:c.1316T>A	XP_011522920.1:p.Phe439Tyr
XR_243646.2:n.1665T>A
XM_005257229.4:c.1621T>A	XP_005257286.1:p.Leu541Met
XR_001753015.1:n.87+47A>T
XR_001753016.1:n.88+47A>T
XR_243646.4:n.1671T>A
NM_207346.3:c.1433T>A MANE Select	NP_997229.2:p.Phe478Tyr