Canonical Allele Identifier: CA507961039
Gene: SIX5 HGNC NCBI

Linked Data

gnomAD v4: 19-45766429-T-G
MyVariant Identifiers: chr19:g.46269687T>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766429T>G , CM000681.2:g.45766429T>G GRCh38
NC_000019.9:g.46269687T>G , CM000681.1:g.46269687T>G GRCh37
NC_000019.8:g.50961527T>G NCBI36
NG_012745.1:g.7811A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1530A>C MANE Select ENSP00000316842.4:p.Ala510=
ENST00000317578.6:c.1530A>C ENSP00000316842.4:p.Ala510=
ENST00000560160.1:c.587-318A>C
ENST00000560168.1:c.*718A>C ENSP00000453189.2:n.*718A>C
ENST00000622857.1:c.16-467A>C ENSP00000481365.1:n.16-467A>C
NM_175875.4:c.1530A>C NP_787071.2:p.Ala510=
NM_175875.5:c.1530A>C MANE Select NP_787071.3:p.Ala510=
Search 100 bp 5'
Search 100 bp 3'