Canonical Allele Identifier: CA707374578
Gene: SIX1 HGNC NCBI

Linked Data

dbSNP Id: rs1241357583
gnomAD v3: 14-60649478-G-C
gnomAD v4: 14-60649478-G-C
MyVariant Identifiers: chr14:g.61116196G>C (hg19) chr14:g.60649478G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60649478G>C , CM000676.2:g.60649478G>C GRCh38
NC_000014.8:g.61116196G>C , CM000676.1:g.61116196G>C GRCh37
NC_000014.7:g.60185949G>C NCBI36
NG_008231.1:g.4960C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553535.2:n.248+2457C>G
ENST00000554986.2:c.42-2901C>G ENSP00000452700.2:n.42-2901C>G
ENST00000555955.3:n.1197+2457C>G
XM_017021602.2:c.-289C>G XP_016877091.1:n.-289C>G
Search 100 bp 5'
Search 100 bp 3'