Canonical Allele Identifier: CA507961118

Gene: SIX5

Linked Data

• dbSNP Id: rs1969075980
• gnomAD v3: 19-45766450-G-A
• gnomAD v4: 19-45766450-G-A
• MyVariant Identifiers: chr19:g.46269708G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45766450G>A , CM000681.2:g.45766450G>A	GRCh38
NC_000019.9:g.46269708G>A , CM000681.1:g.46269708G>A	GRCh37
NC_000019.8:g.50961548G>A	NCBI36
NG_012745.1:g.7790C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317578.7:c.1509C>T MANE Select	ENSP00000316842.4:p.Ser503=
ENST00000317578.6:c.1509C>T	ENSP00000316842.4:p.Ser503=
ENST00000560160.1:c.587-339C>T
ENST00000560168.1:c.*697C>T	ENSP00000453189.2:n.*697C>T
ENST00000622857.1:c.16-488C>T	ENSP00000481365.1:n.16-488C>T
NM_175875.4:c.1509C>T	NP_787071.2:p.Ser503=
NM_175875.5:c.1509C>T MANE Select	NP_787071.3:p.Ser503=