Canonical Allele Identifier: CA261719746

Gene: SIX1

Linked Data

• ClinVar Variation Id: 882089
• ClinVar RCV Id: RCV001111475 ; RCV001111476
• dbSNP Id: rs558532789
• gnomAD v2: 14-61111769-A-G
• gnomAD v3: 14-60645051-A-G
• gnomAD v4: 14-60645051-A-G
• MyVariant Identifiers: chr14:g.61111769A>G (hg19) ; chr14:g.60645051A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60645051A>G , CM000676.2:g.60645051A>G	GRCh38
NC_000014.8:g.61111769A>G , CM000676.1:g.61111769A>G	GRCh37
NC_000014.7:g.60181522A>G	NCBI36
NG_008231.1:g.9387T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645694.3:c.*1232T>C MANE Select	ENSP00000494686.1:n.*1232T>C
ENST00000247182.6:c.*1232T>C	ENSP00000247182.5:n.*1232T>C
ENST00000554986.2:c.*1232T>C	ENSP00000452700.2:n.*1232T>C
ENST00000555955.3:n.2724T>C
NM_005982.3:c.*1232T>C	NP_005973.1:n.*1232T>C
XM_017021602.2:c.*1506T>C	XP_016877091.1:n.*1506T>C
NM_005982.4:c.*1232T>C MANE Select	NP_005973.1:n.*1232T>C