Canonical Allele Identifier: CA294075281
Gene: TSEN54 HGNC NCBI

Linked Data

dbSNP Id: rs1005368634
gnomAD v3: 17-75516360-G-C
gnomAD v4: 17-75516360-G-C
MyVariant Identifiers: chr17:g.73512441G>C (hg19) chr17:g.75516360G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75516360G>C , CM000679.2:g.75516360G>C GRCh38
NC_000017.10:g.73512441G>C , CM000679.1:g.73512441G>C GRCh37
NC_000017.9:g.71024036G>C NCBI36
NG_013041.1:g.4833G>C
NG_033152.1:g.4224C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000434205.8:c.-109G>C ENSP00000406559.4:n.-109G>C
ENST00000679370.1:n.417G>C
ENST00000434205.7:c.-109G>C ENSP00000406559.3:n.-109G>C
XM_006721821.2:c.-274G>C XP_006721884.1:n.-274G>C
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