Canonical Allele Identifier: CA389910400
Gene: SIX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1327579
ClinVar RCV Id: RCV001789841
dbSNP Id: rs1303947821
MyVariant Identifiers: chr14:g.61115512C>G (hg19) chr14:g.60648794C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60648794C>G , CM000676.2:g.60648794C>G GRCh38
NC_000014.8:g.61115512C>G , CM000676.1:g.61115512C>G GRCh37
NC_000014.7:g.60185265C>G NCBI36
NG_008231.1:g.5644G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000645694.3:c.396G>C MANE Select ENSP00000494686.1:p.Lys132Asn
ENST00000247182.6:c.396G>C ENSP00000247182.5:p.Lys132Asn
ENST00000553535.2:n.249-2217G>C
ENST00000554986.2:c.42-2217G>C ENSP00000452700.2:n.42-2217G>C
ENST00000555955.3:n.1198-2217G>C
NM_005982.3:c.396G>C NP_005973.1:p.Lys132Asn
XM_017021602.2:c.396G>C XP_016877091.1:p.Lys132Asn
NM_005982.4:c.396G>C MANE Select NP_005973.1:p.Lys132Asn
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