Canonical Allele Identifier: CA775072436
Gene: TSEN54 HGNC NCBI

Linked Data

dbSNP Id: rs1182636172
gnomAD v4: 17-75516220-C-G
MyVariant Identifiers: chr17:g.73512301C>G (hg19) chr17:g.75516220C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75516220C>G , CM000679.2:g.75516220C>G GRCh38
NC_000017.10:g.73512301C>G , CM000679.1:g.73512301C>G GRCh37
NC_000017.9:g.71023896C>G NCBI36
NG_013041.1:g.4693C>G
NG_033152.1:g.4364G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000434205.8:c.-249C>G ENSP00000406559.4:n.-249C>G
ENST00000679370.1:n.277C>G
ENST00000434205.7:c.-249C>G ENSP00000406559.3:n.-249C>G
XM_006721821.2:c.-414C>G XP_006721884.1:n.-414C>G
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