Canonical Allele Identifier: CA14436337
Gene: SP6 HGNC NCBI

Linked Data

dbSNP Id: rs4794202
gnomAD v2: 17-45930539-G-T
gnomAD v3: 17-47853173-G-T
gnomAD v4: 17-47853173-G-T
MyVariant Identifiers: chr17:g.45930539G>T (hg19) chr17:g.47853173G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47853173G>T , CM000679.2:g.47853173G>T GRCh38
NC_000017.10:g.45930539G>T , CM000679.1:g.45930539G>T GRCh37
NC_000017.9:g.43285538G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342234.3:c.-58+2481C>A ENSP00000340799.2:n.-58+2481C>A
NM_199262.2:c.-58+2481C>A NP_954871.1:n.-58+2481C>A
XM_006722115.2:c.-57-4687C>A XP_006722178.1:n.-57-4687C>A
XM_006722115.3:c.-57-4687C>A XP_006722178.1:n.-57-4687C>A
NM_199262.3:c.-58+2481C>A NP_954871.1:n.-58+2481C>A
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