Canonical Allele Identifier: CA2625128938
Gene: SIX1 HGNC NCBI

Linked Data

gnomAD v4: 14-60649318-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60649318G>A , CM000676.2:g.60649318G>A GRCh38
NC_000014.8:g.61116036G>A , CM000676.1:g.61116036G>A GRCh37
NC_000014.7:g.60185789G>A NCBI36
NG_008231.1:g.5120C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000645694.3:c.-129C>T MANE Select ENSP00000494686.1:n.-129C>T
ENST00000247182.6:c.-129C>T ENSP00000247182.5:n.-129C>T
ENST00000553535.2:n.248+2617C>T
ENST00000554986.2:c.42-2741C>T ENSP00000452700.2:n.42-2741C>T
ENST00000555955.3:n.1197+2617C>T
NM_005982.3:c.-129C>T NP_005973.1:n.-129C>T
XM_017021602.2:c.-129C>T XP_016877091.1:n.-129C>T
NM_005982.4:c.-129C>T MANE Select NP_005973.1:n.-129C>T
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