Canonical Allele Identifier: CA2625129220
Gene: SIX1 HGNC NCBI

Linked Data

gnomAD v4: 14-60649487-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60649487T>C , CM000676.2:g.60649487T>C GRCh38
NC_000014.8:g.61116205T>C , CM000676.1:g.61116205T>C GRCh37
NC_000014.7:g.60185958T>C NCBI36
NG_008231.1:g.4951A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553535.2:n.248+2448A>G
ENST00000554986.2:c.42-2910A>G ENSP00000452700.2:n.42-2910A>G
ENST00000555955.3:n.1197+2448A>G
XM_017021602.2:c.-298A>G XP_016877091.1:n.-298A>G
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