Canonical Allele Identifier: CA401031349

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 1373652
• ClinVar RCV Id: RCV001880790
• dbSNP Id: rs2053477029
• gnomAD v4: 17-75524353-G-A
• MyVariant Identifiers: chr17:g.73520434G>A (hg19) ; chr17:g.75524353G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524353G>A , CM000679.2:g.75524353G>A	GRCh38
NC_000017.10:g.73520434G>A , CM000679.1:g.73520434G>A	GRCh37
NC_000017.9:g.71032029G>A	NCBI36
NG_013041.1:g.12826G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1522G>A MANE Select	ENSP00000327487.6:p.Gly508Ser
ENST00000434205.8:c.1219G>A	ENSP00000406559.4:p.Gly407Ser
ENST00000545228.3:c.*21G>A	ENSP00000438169.3:n.*21G>A
ENST00000577197.2:n.720G>A
ENST00000579449.2:n.2262G>A
ENST00000580013.6:n.2666G>A
ENST00000679370.1:n.3044G>A
ENST00000679429.1:c.*980G>A	ENSP00000505403.1:n.*980G>A
ENST00000679443.1:n.1591G>A
ENST00000679782.1:c.*221G>A	ENSP00000505995.1:n.*221G>A
ENST00000679919.1:n.1793G>A
ENST00000679928.1:c.*2074G>A	ENSP00000506071.1:n.*2074G>A
ENST00000680528.1:n.2488G>A
ENST00000680999.1:c.1735G>A	ENSP00000504984.1:p.Gly579Ser
ENST00000681282.1:c.*1709G>A	ENSP00000506339.1:n.*1709G>A
ENST00000333213.10:c.1522G>A	ENSP00000327487.6:p.Gly508Ser
ENST00000545228.2:c.799G>A
ENST00000577197.1:n.270G>A
ENST00000579449.1:n.719G>A
NM_207346.2:c.1522G>A	NP_997229.2:p.Gly508Ser
XM_005257229.2:c.*21G>A	XP_005257286.1:n.*21G>A
XM_006721821.2:c.*21G>A	XP_006721884.1:n.*21G>A
XM_011524616.1:c.*21G>A	XP_011522918.1:n.*21G>A
XM_011524618.1:c.1405G>A	XP_011522920.1:p.Gly469Ser
XR_243646.2:n.1754G>A
XM_005257229.4:c.*21G>A	XP_005257286.1:n.*21G>A
XR_001753015.1:n.45C>T
XR_001753016.1:n.46C>T
XR_243646.4:n.1760G>A
NM_207346.3:c.1522G>A MANE Select	NP_997229.2:p.Gly508Ser