Canonical Allele Identifier: CA507833852
Gene: SIX5 HGNC NCBI

Linked Data

dbSNP Id: rs1313331978
gnomAD v2: 19-46270260-G-A
gnomAD v4: 19-45767002-G-A
MyVariant Identifiers: chr19:g.46270260G>A (hg19) chr19:g.45767002G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45767002G>A , CM000681.2:g.45767002G>A GRCh38
NC_000019.9:g.46270260G>A , CM000681.1:g.46270260G>A GRCh37
NC_000019.8:g.50962100G>A NCBI36
NG_012745.1:g.7238C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.957C>T MANE Select ENSP00000316842.4:p.Ser319=
ENST00000317578.6:c.957C>T ENSP00000316842.4:p.Ser319=
ENST00000560160.1:c.587-891C>T
ENST00000560168.1:c.*145C>T ENSP00000453189.2:n.*145C>T
ENST00000622857.1:c.16-1040C>T ENSP00000481365.1:n.16-1040C>T
NM_175875.4:c.957C>T NP_787071.2:p.Ser319=
NM_175875.5:c.957C>T MANE Select NP_787071.3:p.Ser319=
Search 100 bp 5'
Search 100 bp 3'