Canonical Allele Identifier: CA173725
Gene: TSEN54 HGNC NCBI

Linked Data

ClinVar Variation Id: 160132
ClinVar RCV Id: RCV000147778
dbSNP Id: rs587784478
gnomAD v3: 17-75516561-A-C
gnomAD v4: 17-75516561-A-C
MyVariant Identifiers: chr17:g.73512642A>C (hg19) chr17:g.75516561A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75516561A>C , CM000679.2:g.75516561A>C GRCh38
NC_000017.10:g.73512642A>C , CM000679.1:g.73512642A>C GRCh37
NC_000017.9:g.71024237A>C NCBI36
NG_013041.1:g.5034A>C
NG_033152.1:g.4023T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000333213.11:c.1A>C MANE Select ENSP00000327487.6:p.Met1Leu
ENST00000434205.8:c.-83+175A>C ENSP00000406559.4:n.-83+175A>C
ENST00000545228.3:c.1A>C ENSP00000438169.3:p.Met1Leu
ENST00000580013.6:n.10A>C
ENST00000583818.2:c.1A>C ENSP00000461928.2:p.Met1Leu
ENST00000679370.1:n.443+175A>C
ENST00000679429.1:c.1A>C ENSP00000505403.1:p.Met1Leu
ENST00000679782.1:c.1A>C ENSP00000505995.1:p.Met1Leu
ENST00000679928.1:c.1A>C ENSP00000506071.1:p.Met1Leu
ENST00000680528.1:n.26A>C
ENST00000680999.1:c.1A>C ENSP00000504984.1:p.Met1Leu
ENST00000681282.1:c.1A>C ENSP00000506339.1:p.Met1Leu
ENST00000333213.10:c.1A>C ENSP00000327487.6:p.Met1Leu
ENST00000434205.7:c.-83+175A>C ENSP00000406559.3:n.-83+175A>C
ENST00000580013.5:n.26A>C
ENST00000583173.5:c.1A>C ENSP00000463619.1:p.Met1Leu
ENST00000583454.1:n.36A>C
NM_207346.2:c.1A>C NP_997229.2:p.Met1Leu
XM_005257229.2:c.1A>C XP_005257286.1:p.Met1Leu
XM_006721821.2:c.-248+175A>C XP_006721884.1:n.-248+175A>C
XM_011524616.1:c.1A>C XP_011522918.1:p.Met1Leu
XM_011524617.1:c.1A>C XP_011522919.1:p.Met1Leu
XM_011524618.1:c.1A>C XP_011522920.1:p.Met1Leu
XR_243646.2:n.31A>C
XM_005257229.4:c.1A>C XP_005257286.1:p.Met1Leu
XR_243646.4:n.37A>C
NM_207346.3:c.1A>C MANE Select NP_997229.2:p.Met1Leu
Search 100 bp 5'
Search 100 bp 3'