Canonical Allele Identifier: CA627405625
Gene: TSEN54 HGNC NCBI

Linked Data

dbSNP Id: rs1183756283
gnomAD v2: 17-73512246-C-T
gnomAD v3: 17-75516165-C-T
gnomAD v4: 17-75516165-C-T
MyVariant Identifiers: chr17:g.73512246C>T (hg19) chr17:g.75516165C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75516165C>T , CM000679.2:g.75516165C>T GRCh38
NC_000017.10:g.73512246C>T , CM000679.1:g.73512246C>T GRCh37
NC_000017.9:g.71023841C>T NCBI36
NG_013041.1:g.4638C>T
NG_033152.1:g.4419G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000434205.8:c.-304C>T ENSP00000406559.4:n.-304C>T
ENST00000679370.1:n.222C>T
ENST00000434205.7:c.-304C>T ENSP00000406559.3:n.-304C>T
XM_006721821.2:c.-469C>T XP_006721884.1:n.-469C>T
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