Canonical Allele Identifier: CA261724046

Gene: SIX1

Linked Data

• dbSNP Id: rs374926607
• gnomAD v3: 14-60649622-G-T
• gnomAD v4: 14-60649622-G-T
• MyVariant Identifiers: chr14:g.61116340G>T (hg19) ; chr14:g.60649622G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60649622G>T , CM000676.2:g.60649622G>T	GRCh38
NC_000014.8:g.61116340G>T , CM000676.1:g.61116340G>T	GRCh37
NC_000014.7:g.60186093G>T	NCBI36
NG_008231.1:g.4816C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553535.2:n.248+2313C>A
ENST00000554986.2:c.42-3045C>A	ENSP00000452700.2:n.42-3045C>A
ENST00000555955.3:n.1197+2313C>A