Canonical Allele Identifier: CA2625129196
Gene: SIX1 HGNC NCBI

Linked Data

gnomAD v4: 14-60649478-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60649478G>T , CM000676.2:g.60649478G>T GRCh38
NC_000014.8:g.61116196G>T , CM000676.1:g.61116196G>T GRCh37
NC_000014.7:g.60185949G>T NCBI36
NG_008231.1:g.4960C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553535.2:n.248+2457C>A
ENST00000554986.2:c.42-2901C>A ENSP00000452700.2:n.42-2901C>A
ENST00000555955.3:n.1197+2457C>A
XM_017021602.2:c.-289C>A XP_016877091.1:n.-289C>A
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