Canonical Allele Identifier: CA294080885

Gene: TSEN54

Linked Data

• dbSNP Id: rs200275380
• gnomAD v3: 17-75524354-G-A
• gnomAD v4: 17-75524354-G-A
• MyVariant Identifiers: chr17:g.73520435G>A (hg19) ; chr17:g.75524354G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524354G>A , CM000679.2:g.75524354G>A	GRCh38
NC_000017.10:g.73520435G>A , CM000679.1:g.73520435G>A	GRCh37
NC_000017.9:g.71032030G>A	NCBI36
NG_013041.1:g.12827G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1523G>A MANE Select	ENSP00000327487.6:p.Gly508Asp
ENST00000434205.8:c.1220G>A	ENSP00000406559.4:p.Gly407Asp
ENST00000545228.3:c.*22G>A	ENSP00000438169.3:n.*22G>A
ENST00000577197.2:n.721G>A
ENST00000579449.2:n.2263G>A
ENST00000580013.6:n.2667G>A
ENST00000679370.1:n.3045G>A
ENST00000679429.1:c.*981G>A	ENSP00000505403.1:n.*981G>A
ENST00000679443.1:n.1592G>A
ENST00000679782.1:c.*222G>A	ENSP00000505995.1:n.*222G>A
ENST00000679919.1:n.1794G>A
ENST00000679928.1:c.*2075G>A	ENSP00000506071.1:n.*2075G>A
ENST00000680528.1:n.2489G>A
ENST00000680999.1:c.1736G>A	ENSP00000504984.1:p.Gly579Asp
ENST00000681282.1:c.*1710G>A	ENSP00000506339.1:n.*1710G>A
ENST00000333213.10:c.1523G>A	ENSP00000327487.6:p.Gly508Asp
ENST00000545228.2:c.800G>A
ENST00000577197.1:n.271G>A
ENST00000579449.1:n.720G>A
NM_207346.2:c.1523G>A	NP_997229.2:p.Gly508Asp
XM_005257229.2:c.*22G>A	XP_005257286.1:n.*22G>A
XM_006721821.2:c.*22G>A	XP_006721884.1:n.*22G>A
XM_011524616.1:c.*22G>A	XP_011522918.1:n.*22G>A
XM_011524618.1:c.1406G>A	XP_011522920.1:p.Gly469Asp
XR_243646.2:n.1755G>A
XM_005257229.4:c.*22G>A	XP_005257286.1:n.*22G>A
XR_001753015.1:n.44C>T
XR_001753016.1:n.45C>T
XR_243646.4:n.1761G>A
NM_207346.3:c.1523G>A MANE Select	NP_997229.2:p.Gly508Asp