Canonical Allele Identifier: CA261723872

Gene: SIX1

Linked Data

• dbSNP Id: rs1046611287
• gnomAD v4: 14-60649496-A-C
• MyVariant Identifiers: chr14:g.61116214A>C (hg19) ; chr14:g.60649496A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60649496A>C , CM000676.2:g.60649496A>C	GRCh38
NC_000014.8:g.61116214A>C , CM000676.1:g.61116214A>C	GRCh37
NC_000014.7:g.60185967A>C	NCBI36
NG_008231.1:g.4942T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553535.2:n.248+2439T>G
ENST00000554986.2:c.42-2919T>G	ENSP00000452700.2:n.42-2919T>G
ENST00000555955.3:n.1197+2439T>G