Canonical Allele Identifier: CA2625129308
Gene: SIX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60649530T>A , CM000676.2:g.60649530T>A GRCh38
NC_000014.8:g.61116248T>A , CM000676.1:g.61116248T>A GRCh37
NC_000014.7:g.60186001T>A NCBI36
NG_008231.1:g.4908A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553535.2:n.248+2405A>T
ENST00000554986.2:c.42-2953A>T ENSP00000452700.2:n.42-2953A>T
ENST00000555955.3:n.1197+2405A>T