Canonical Allele Identifier: CA2275548199
Gene: TSEN54 HGNC NCBI

Linked Data

dbSNP Id: rs1406715946
gnomAD v3: 17-75516380-C-A
gnomAD v4: 17-75516380-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75516380C>A , CM000679.2:g.75516380C>A GRCh38
NC_000017.10:g.73512461C>A , CM000679.1:g.73512461C>A GRCh37
NC_000017.9:g.71024056C>A NCBI36
NG_013041.1:g.4853C>A
NG_033152.1:g.4204G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000434205.8:c.-89C>A ENSP00000406559.4:n.-89C>A
ENST00000679370.1:n.437C>A
ENST00000434205.7:c.-89C>A ENSP00000406559.3:n.-89C>A
XM_006721821.2:c.-254C>A XP_006721884.1:n.-254C>A
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