Canonical Allele Identifier: CA963740509
Gene: SIX1 HGNC NCBI

Linked Data

dbSNP Id: rs1894911369
gnomAD v3: 14-60644763-C-G
gnomAD v4: 14-60644763-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60644763C>G , CM000676.2:g.60644763C>G GRCh38
NC_000014.8:g.61111481C>G , CM000676.1:g.61111481C>G GRCh37
NC_000014.7:g.60181234C>G NCBI36
NG_008231.1:g.9675G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000645694.3:c.*1520G>C MANE Select ENSP00000494686.1:n.*1520G>C
ENST00000247182.6:c.*1520G>C ENSP00000247182.5:n.*1520G>C
ENST00000554986.2:c.*1520G>C ENSP00000452700.2:n.*1520G>C
NM_005982.3:c.*1520G>C NP_005973.1:n.*1520G>C
XM_017021602.2:c.*1794G>C XP_016877091.1:n.*1794G>C
NM_005982.4:c.*1520G>C MANE Select NP_005973.1:n.*1520G>C
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