Canonical Allele Identifier: CA10635011

Gene: SIX1

Linked Data

• ClinVar Variation Id: 313472
• ClinVar RCV Id: RCV000350945 ; RCV000401629
• dbSNP Id: rs187402923
• gnomAD v2: 14-61116091-T-G
• gnomAD v3: 14-60649373-T-G
• gnomAD v4: 14-60649373-T-G
• MyVariant Identifiers: chr14:g.61116091T>G (hg19) ; chr14:g.60649373T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60649373T>G , CM000676.2:g.60649373T>G	GRCh38
NC_000014.8:g.61116091T>G , CM000676.1:g.61116091T>G	GRCh37
NC_000014.7:g.60185844T>G	NCBI36
NG_008231.1:g.5065A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000645694.3:c.-184A>C MANE Select	ENSP00000494686.1:n.-184A>C
ENST00000247182.6:c.-184A>C	ENSP00000247182.5:n.-184A>C
ENST00000553535.2:n.248+2562A>C
ENST00000554986.2:c.42-2796A>C	ENSP00000452700.2:n.42-2796A>C
ENST00000555955.3:n.1197+2562A>C
NM_005982.3:c.-184A>C	NP_005973.1:n.-184A>C
XM_017021602.2:c.-184A>C	XP_016877091.1:n.-184A>C
NM_005982.4:c.-184A>C MANE Select	NP_005973.1:n.-184A>C