Canonical Allele Identifier: CA9520689

Gene: SIX5

Linked Data

• ClinVar Variation Id: 2716152
• ClinVar RCV Id: RCV003546064
• dbSNP Id: rs780345670
• ExAC: 19:46270194 G / T
• gnomAD v2: 19-46270194-G-T
• gnomAD v3: 19-45766936-G-T
• gnomAD v4: 19-45766936-G-T
• MyVariant Identifiers: chr19:g.46270194G>T (hg19) ; chr19:g.45766936G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45766936G>T , CM000681.2:g.45766936G>T	GRCh38
NC_000019.9:g.46270194G>T , CM000681.1:g.46270194G>T	GRCh37
NC_000019.8:g.50962034G>T	NCBI36
NG_012745.1:g.7304C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317578.7:c.1023C>A MANE Select	ENSP00000316842.4:p.Gly341=
ENST00000317578.6:c.1023C>A	ENSP00000316842.4:p.Gly341=
ENST00000560160.1:c.587-825C>A
ENST00000560168.1:c.*211C>A	ENSP00000453189.2:n.*211C>A
ENST00000622857.1:c.16-974C>A	ENSP00000481365.1:n.16-974C>A
NM_175875.4:c.1023C>A	NP_787071.2:p.Gly341=
NM_175875.5:c.1023C>A MANE Select	NP_787071.3:p.Gly341=