Canonical Allele Identifier: CA963743331
Gene: SIX1 HGNC NCBI

Linked Data

dbSNP Id: rs1308539279
gnomAD v3: 14-60649694-A-T
gnomAD v4: 14-60649694-A-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60649694A>T , CM000676.2:g.60649694A>T GRCh38
NC_000014.8:g.61116412A>T , CM000676.1:g.61116412A>T GRCh37
NC_000014.7:g.60186165A>T NCBI36
NG_008231.1:g.4744T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553535.2:n.248+2241T>A
ENST00000554986.2:c.42-3117T>A ENSP00000452700.2:n.42-3117T>A
ENST00000555955.3:n.1197+2241T>A
Search 100 bp 5'
Search 100 bp 3'