Canonical Allele Identifier: CA7212737
Gene: SIX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 493144
ClinVar RCV Id: RCV000584896 RCV002530834
dbSNP Id: rs571997198
ExAC: 14:61113166 C / G
gnomAD v2: 14-61113166-C-G
gnomAD v3: 14-60646448-C-G
gnomAD v4: 14-60646448-C-G
MyVariant Identifiers: chr14:g.61113166C>G (hg19) chr14:g.60646448C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60646448C>G , CM000676.2:g.60646448C>G GRCh38
NC_000014.8:g.61113166C>G , CM000676.1:g.61113166C>G GRCh37
NC_000014.7:g.60182919C>G NCBI36
NG_008231.1:g.7990G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000645694.3:c.690G>C MANE Select ENSP00000494686.1:p.Ser230=
ENST00000247182.6:c.690G>C ENSP00000247182.5:p.Ser230=
ENST00000553535.2:n.378G>C
ENST00000554986.2:c.171G>C ENSP00000452700.2:p.Ser57=
ENST00000555955.3:n.1327G>C
NM_005982.3:c.690G>C NP_005973.1:p.Ser230=
XM_017021602.2:c.*109G>C XP_016877091.1:n.*109G>C
NM_005982.4:c.690G>C MANE Select NP_005973.1:p.Ser230=
Search 100 bp 5'
Search 100 bp 3'