Canonical Allele Identifier: CA9520628

Gene: SIX5

Linked Data

• ClinVar Variation Id: 1360087
• ClinVar RCV Id: RCV001872408 ; RCV002482501 ; RCV004039719
• dbSNP Id: rs550402717
• ExAC: 19:46269827 T / A
• gnomAD v2: 19-46269827-T-A
• gnomAD v3: 19-45766569-T-A
• gnomAD v4: 19-45766569-T-A
• MyVariant Identifiers: chr19:g.46269827T>A (hg19) ; chr19:g.45766569T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45766569T>A , CM000681.2:g.45766569T>A	GRCh38
NC_000019.9:g.46269827T>A , CM000681.1:g.46269827T>A	GRCh37
NC_000019.8:g.50961667T>A	NCBI36
NG_012745.1:g.7671A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317578.7:c.1390A>T MANE Select	ENSP00000316842.4:p.Thr464Ser
ENST00000317578.6:c.1390A>T	ENSP00000316842.4:p.Thr464Ser
ENST00000560160.1:c.587-458A>T
ENST00000560168.1:c.*578A>T	ENSP00000453189.2:n.*578A>T
ENST00000622857.1:c.16-607A>T	ENSP00000481365.1:n.16-607A>T
NM_175875.4:c.1390A>T	NP_787071.2:p.Thr464Ser
NM_175875.5:c.1390A>T MANE Select	NP_787071.3:p.Thr464Ser