Canonical Allele Identifier: CA261719637
Gene: SIX1 HGNC NCBI

Linked Data

dbSNP Id: rs569954956
gnomAD v2: 14-61111485-A-C
gnomAD v3: 14-60644767-A-C
gnomAD v4: 14-60644767-A-C
MyVariant Identifiers: chr14:g.61111485A>C (hg19) chr14:g.60644767A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60644767A>C , CM000676.2:g.60644767A>C GRCh38
NC_000014.8:g.61111485A>C , CM000676.1:g.61111485A>C GRCh37
NC_000014.7:g.60181238A>C NCBI36
NG_008231.1:g.9671T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000645694.3:c.*1516T>G MANE Select ENSP00000494686.1:n.*1516T>G
ENST00000247182.6:c.*1516T>G ENSP00000247182.5:n.*1516T>G
ENST00000554986.2:c.*1516T>G ENSP00000452700.2:n.*1516T>G
NM_005982.3:c.*1516T>G NP_005973.1:n.*1516T>G
XM_017021602.2:c.*1790T>G XP_016877091.1:n.*1790T>G
NM_005982.4:c.*1516T>G MANE Select NP_005973.1:n.*1516T>G
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