Canonical Allele Identifier: CA2625129358
Gene: SIX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60649573G>A , CM000676.2:g.60649573G>A GRCh38
NC_000014.8:g.61116291G>A , CM000676.1:g.61116291G>A GRCh37
NC_000014.7:g.60186044G>A NCBI36
NG_008231.1:g.4865C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553535.2:n.248+2362C>T
ENST00000554986.2:c.42-2996C>T ENSP00000452700.2:n.42-2996C>T
ENST00000555955.3:n.1197+2362C>T