Canonical Allele Identifier: CA7212852

Gene: SIX1

Linked Data

• ClinVar Variation Id: 227075
• ClinVar RCV Id: RCV000221837 ; RCV000328781 ; RCV000383302 ; RCV000871377 ; RCV001610531 ; RCV002500694
• dbSNP Id: rs150550985
• ExAC: 14:61115746 C / T
• gnomAD v2: 14-61115746-C-T
• gnomAD v3: 14-60649028-C-T
• gnomAD v4: 14-60649028-C-T
• MyVariant Identifiers: chr14:g.61115746C>T (hg19) ; chr14:g.60649028C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60649028C>T , CM000676.2:g.60649028C>T	GRCh38
NC_000014.8:g.61115746C>T , CM000676.1:g.61115746C>T	GRCh37
NC_000014.7:g.60185499C>T	NCBI36
NG_008231.1:g.5410G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000645694.3:c.162G>A MANE Select	ENSP00000494686.1:p.Ala54=
ENST00000247182.6:c.162G>A	ENSP00000247182.5:p.Ala54=
ENST00000553535.2:n.249-2451G>A
ENST00000554986.2:c.42-2451G>A	ENSP00000452700.2:n.42-2451G>A
ENST00000555955.3:n.1198-2451G>A
NM_005982.3:c.162G>A	NP_005973.1:p.Ala54=
XM_017021602.2:c.162G>A	XP_016877091.1:p.Ala54=
NM_005982.4:c.162G>A MANE Select	NP_005973.1:p.Ala54=