Canonical Allele Identifier: CA401029614

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 813591
• ClinVar RCV Id: RCV001252778 ; RCV004030275
• dbSNP Id: rs942598979
• gnomAD v3: 17-75522080-C-A
• gnomAD v4: 17-75522080-C-A
• MyVariant Identifiers: chr17:g.73518161C>A (hg19) ; chr17:g.75522080C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75522080C>A , CM000679.2:g.75522080C>A	GRCh38
NC_000017.10:g.73518161C>A , CM000679.1:g.73518161C>A	GRCh37
NC_000017.9:g.71029756C>A	NCBI36
NG_013041.1:g.10553C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.999C>A MANE Select	ENSP00000327487.6:p.Asp333Glu
ENST00000434205.8:c.696C>A	ENSP00000406559.4:p.Asp232Glu
ENST00000545228.3:c.999C>A	ENSP00000438169.3:p.Asp333Glu
ENST00000579449.2:n.798C>A
ENST00000580013.6:n.1202C>A
ENST00000679370.1:n.1580C>A
ENST00000679429.1:c.*457C>A	ENSP00000505403.1:n.*457C>A
ENST00000679443.1:n.1068C>A
ENST00000679782.1:c.999C>A	ENSP00000505995.1:p.Asp333Glu
ENST00000679919.1:n.1068C>A
ENST00000679928.1:c.*610C>A	ENSP00000506071.1:n.*610C>A
ENST00000680528.1:n.1024C>A
ENST00000680999.1:c.999C>A	ENSP00000504984.1:p.Asp333Glu
ENST00000681282.1:c.*245C>A	ENSP00000506339.1:n.*245C>A
ENST00000333213.10:c.999C>A	ENSP00000327487.6:p.Asp333Glu
ENST00000545228.2:c.88C>A
ENST00000578415.1:c.959C>A
ENST00000583173.5:c.532C>A	ENSP00000463619.1:p.Arg178Ser
NM_207346.2:c.999C>A	NP_997229.2:p.Asp333Glu
XM_005257229.2:c.999C>A	XP_005257286.1:p.Asp333Glu
XM_006721821.2:c.696C>A	XP_006721884.1:p.Asp232Glu
XM_011524616.1:c.999C>A	XP_011522918.1:p.Asp333Glu
XM_011524617.1:c.999C>A	XP_011522919.1:p.Asp333Glu
XM_011524618.1:c.999C>A	XP_011522920.1:p.Asp333Glu
XR_243646.2:n.1029C>A
XM_005257229.4:c.999C>A	XP_005257286.1:p.Asp333Glu
XR_243646.4:n.1035C>A
NM_207346.3:c.999C>A MANE Select	NP_997229.2:p.Asp333Glu