Canonical Allele Identifier: CA16619880
Gene: SIX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 418491
ClinVar RCV Id: RCV000483984
dbSNP Id: rs1064793268
gnomAD v3: 14-60648642-T-C
gnomAD v4: 14-60648642-T-C
MyVariant Identifiers: chr14:g.61115360T>C (hg19) chr14:g.60648642T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60648642T>C , CM000676.2:g.60648642T>C GRCh38
NC_000014.8:g.61115360T>C , CM000676.1:g.61115360T>C GRCh37
NC_000014.7:g.60185113T>C NCBI36
NG_008231.1:g.5796A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000645694.3:c.548A>G MANE Select ENSP00000494686.1:p.Glu183Gly
ENST00000247182.6:c.548A>G ENSP00000247182.5:p.Glu183Gly
ENST00000553535.2:n.249-2065A>G
ENST00000554986.2:c.42-2065A>G ENSP00000452700.2:n.42-2065A>G
ENST00000555955.3:n.1198-2065A>G
NM_005982.3:c.548A>G NP_005973.1:p.Glu183Gly
XM_017021602.2:c.501+47A>G XP_016877091.1:n.501+47A>G
NM_005982.4:c.548A>G MANE Select NP_005973.1:p.Glu183Gly
Search 100 bp 5'
Search 100 bp 3'