Canonical Allele Identifier: CA261723962

Gene: SIX1

Linked Data

• dbSNP Id: rs185670021
• gnomAD v3: 14-60649575-G-T
• gnomAD v4: 14-60649575-G-T
• MyVariant Identifiers: chr14:g.61116293G>T (hg19) ; chr14:g.60649575G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60649575G>T , CM000676.2:g.60649575G>T	GRCh38
NC_000014.8:g.61116293G>T , CM000676.1:g.61116293G>T	GRCh37
NC_000014.7:g.60186046G>T	NCBI36
NG_008231.1:g.4863C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553535.2:n.248+2360C>A
ENST00000554986.2:c.42-2998C>A	ENSP00000452700.2:n.42-2998C>A
ENST00000555955.3:n.1197+2360C>A