Canonical Allele Identifier: CA294075287
Gene: TSEN54 HGNC NCBI

Linked Data

dbSNP Id: rs189054710
gnomAD v2: 17-73512450-C-G
gnomAD v3: 17-75516369-C-G
gnomAD v4: 17-75516369-C-G
MyVariant Identifiers: chr17:g.73512450C>G (hg19) chr17:g.75516369C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75516369C>G , CM000679.2:g.75516369C>G GRCh38
NC_000017.10:g.73512450C>G , CM000679.1:g.73512450C>G GRCh37
NC_000017.9:g.71024045C>G NCBI36
NG_013041.1:g.4842C>G
NG_033152.1:g.4215G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000434205.8:c.-100C>G ENSP00000406559.4:n.-100C>G
ENST00000679370.1:n.426C>G
ENST00000434205.7:c.-100C>G ENSP00000406559.3:n.-100C>G
XM_006721821.2:c.-265C>G XP_006721884.1:n.-265C>G
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