Canonical Allele Identifier: CA294075219
Gene: TSEN54 HGNC NCBI

Linked Data

dbSNP Id: rs936865424
gnomAD v2: 17-73512250-C-A
gnomAD v3: 17-75516169-C-A
gnomAD v4: 17-75516169-C-A
MyVariant Identifiers: chr17:g.73512250C>A (hg19) chr17:g.75516169C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75516169C>A , CM000679.2:g.75516169C>A GRCh38
NC_000017.10:g.73512250C>A , CM000679.1:g.73512250C>A GRCh37
NC_000017.9:g.71023845C>A NCBI36
NG_013041.1:g.4642C>A
NG_033152.1:g.4415G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000434205.8:c.-300C>A ENSP00000406559.4:n.-300C>A
ENST00000679370.1:n.226C>A
ENST00000434205.7:c.-300C>A ENSP00000406559.3:n.-300C>A
XM_006721821.2:c.-465C>A XP_006721884.1:n.-465C>A
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