Canonical Allele Identifier: CA10654511

Gene: SIX1

Linked Data

• ClinVar Variation Id: 369075
• ClinVar RCV Id: RCV000306945 ; RCV000345183
• dbSNP Id: rs79926530
• gnomAD v2: 14-61116162-C-A
• gnomAD v3: 14-60649444-C-A
• gnomAD v4: 14-60649444-C-A
• MyVariant Identifiers: chr14:g.61116162C>A (hg19) ; chr14:g.60649444C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60649444C>A , CM000676.2:g.60649444C>A	GRCh38
NC_000014.8:g.61116162C>A , CM000676.1:g.61116162C>A	GRCh37
NC_000014.7:g.60185915C>A	NCBI36
NG_008231.1:g.4994G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000645694.3:c.-255G>T MANE Select	ENSP00000494686.1:n.-255G>T
ENST00000247182.6:c.-255G>T	ENSP00000247182.5:n.-255G>T
ENST00000553535.2:n.248+2491G>T
ENST00000554986.2:c.42-2867G>T	ENSP00000452700.2:n.42-2867G>T
ENST00000555955.3:n.1197+2491G>T
XM_017021602.2:c.-255G>T	XP_016877091.1:n.-255G>T
NM_005982.4:c.-255G>T MANE Select	NP_005973.1:n.-255G>T