Canonical Allele Identifier: CA2572943618
Gene: SIX1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60649526A>G , CM000676.2:g.60649526A>G GRCh38
NC_000014.8:g.61116244A>G , CM000676.1:g.61116244A>G GRCh37
NC_000014.7:g.60185997A>G NCBI36
NG_008231.1:g.4912T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553535.2:n.248+2409T>C
ENST00000554986.2:c.42-2949T>C ENSP00000452700.2:n.42-2949T>C
ENST00000555955.3:n.1197+2409T>C
Search 100 bp 5'
Search 100 bp 3'