Canonical Allele Identifier: CA2625128933
Gene: SIX1 HGNC NCBI

Linked Data

gnomAD v4: 14-60649313-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60649313A>C , CM000676.2:g.60649313A>C GRCh38
NC_000014.8:g.61116031A>C , CM000676.1:g.61116031A>C GRCh37
NC_000014.7:g.60185784A>C NCBI36
NG_008231.1:g.5125T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000645694.3:c.-124T>G MANE Select ENSP00000494686.1:n.-124T>G
ENST00000247182.6:c.-124T>G ENSP00000247182.5:n.-124T>G
ENST00000553535.2:n.248+2622T>G
ENST00000554986.2:c.42-2736T>G ENSP00000452700.2:n.42-2736T>G
ENST00000555955.3:n.1197+2622T>G
NM_005982.3:c.-124T>G NP_005973.1:n.-124T>G
XM_017021602.2:c.-124T>G XP_016877091.1:n.-124T>G
NM_005982.4:c.-124T>G MANE Select NP_005973.1:n.-124T>G
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