Canonical Allele Identifier: CA507961032
Gene: SIX5 HGNC NCBI

Linked Data

gnomAD v4: 19-45766426-T-C
MyVariant Identifiers: chr19:g.46269684T>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766426T>C , CM000681.2:g.45766426T>C GRCh38
NC_000019.9:g.46269684T>C , CM000681.1:g.46269684T>C GRCh37
NC_000019.8:g.50961524T>C NCBI36
NG_012745.1:g.7814A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1533A>G MANE Select ENSP00000316842.4:p.Ala511=
ENST00000317578.6:c.1533A>G ENSP00000316842.4:p.Ala511=
ENST00000560160.1:c.587-315A>G
ENST00000560168.1:c.*721A>G ENSP00000453189.2:n.*721A>G
ENST00000622857.1:c.16-464A>G ENSP00000481365.1:n.16-464A>G
NM_175875.4:c.1533A>G NP_787071.2:p.Ala511=
NM_175875.5:c.1533A>G MANE Select NP_787071.3:p.Ala511=
Search 100 bp 5'
Search 100 bp 3'