Canonical Allele Identifier: CA10635006

Gene: SIX1

Linked Data

• ClinVar Variation Id: 313463
• ClinVar RCV Id: RCV000338038 ; RCV000398336
• dbSNP Id: rs886050571
• gnomAD v3: 14-60646122-G-T
• gnomAD v4: 14-60646122-G-T
• MyVariant Identifiers: chr14:g.61112840G>T (hg19) ; chr14:g.60646122G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60646122G>T , CM000676.2:g.60646122G>T	GRCh38
NC_000014.8:g.61112840G>T , CM000676.1:g.61112840G>T	GRCh37
NC_000014.7:g.60182593G>T	NCBI36
NG_008231.1:g.8316C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645694.3:c.*161C>A MANE Select	ENSP00000494686.1:n.*161C>A
ENST00000247182.6:c.*161C>A	ENSP00000247182.5:n.*161C>A
ENST00000553535.2:n.704C>A
ENST00000554986.2:c.*161C>A	ENSP00000452700.2:n.*161C>A
ENST00000555955.3:n.1653C>A
NM_005982.3:c.*161C>A	NP_005973.1:n.*161C>A
XM_017021602.2:c.*435C>A	XP_016877091.1:n.*435C>A
NM_005982.4:c.*161C>A MANE Select	NP_005973.1:n.*161C>A