Canonical Allele Identifier: CA2140881171
Gene: SIX1 HGNC NCBI

Linked Data

dbSNP Id: rs1594673617
gnomAD v4: 14-60649200-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60649200T>C , CM000676.2:g.60649200T>C GRCh38
NC_000014.8:g.61115918T>C , CM000676.1:g.61115918T>C GRCh37
NC_000014.7:g.60185671T>C NCBI36
NG_008231.1:g.5238A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000645694.3:c.-11A>G MANE Select ENSP00000494686.1:n.-11A>G
ENST00000247182.6:c.-11A>G ENSP00000247182.5:n.-11A>G
ENST00000553535.2:n.249-2623A>G
ENST00000554986.2:c.42-2623A>G ENSP00000452700.2:n.42-2623A>G
ENST00000555955.3:n.1198-2623A>G
NM_005982.3:c.-11A>G NP_005973.1:n.-11A>G
XM_017021602.2:c.-11A>G XP_016877091.1:n.-11A>G
NM_005982.4:c.-11A>G MANE Select NP_005973.1:n.-11A>G
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