Canonical Allele Identifier: CA2575567207
Gene: SIX1 HGNC NCBI

Linked Data

gnomAD v4: 14-60649281-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60649281G>C , CM000676.2:g.60649281G>C GRCh38
NC_000014.8:g.61115999G>C , CM000676.1:g.61115999G>C GRCh37
NC_000014.7:g.60185752G>C NCBI36
NG_008231.1:g.5157C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000645694.3:c.-92C>G MANE Select ENSP00000494686.1:n.-92C>G
ENST00000247182.6:c.-92C>G ENSP00000247182.5:n.-92C>G
ENST00000553535.2:n.248+2654C>G
ENST00000554986.2:c.42-2704C>G ENSP00000452700.2:n.42-2704C>G
ENST00000555955.3:n.1197+2654C>G
NM_005982.3:c.-92C>G NP_005973.1:n.-92C>G
XM_017021602.2:c.-92C>G XP_016877091.1:n.-92C>G
NM_005982.4:c.-92C>G MANE Select NP_005973.1:n.-92C>G
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