Canonical Allele Identifier: CA963743218
Gene: SIX1 HGNC NCBI

Linked Data

dbSNP Id: rs1895023867
gnomAD v3: 14-60649511-C-G
gnomAD v4: 14-60649511-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60649511C>G , CM000676.2:g.60649511C>G GRCh38
NC_000014.8:g.61116229C>G , CM000676.1:g.61116229C>G GRCh37
NC_000014.7:g.60185982C>G NCBI36
NG_008231.1:g.4927G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553535.2:n.248+2424G>C
ENST00000554986.2:c.42-2934G>C ENSP00000452700.2:n.42-2934G>C
ENST00000555955.3:n.1197+2424G>C
Search 100 bp 5'
Search 100 bp 3'