Canonical Allele Identifier: CA9520612
Gene: SIX5 HGNC NCBI

Linked Data

dbSNP Id: rs765592386
ExAC: 19:46269695 C / G
gnomAD v2: 19-46269695-C-G
gnomAD v4: 19-45766437-C-G
MyVariant Identifiers: chr19:g.46269695C>G (hg19) chr19:g.45766437C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766437C>G , CM000681.2:g.45766437C>G GRCh38
NC_000019.9:g.46269695C>G , CM000681.1:g.46269695C>G GRCh37
NC_000019.8:g.50961535C>G NCBI36
NG_012745.1:g.7803G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1522G>C MANE Select ENSP00000316842.4:p.Ala508Pro
ENST00000317578.6:c.1522G>C ENSP00000316842.4:p.Ala508Pro
ENST00000560160.1:c.587-326G>C
ENST00000560168.1:c.*710G>C ENSP00000453189.2:n.*710G>C
ENST00000622857.1:c.16-475G>C ENSP00000481365.1:n.16-475G>C
NM_175875.4:c.1522G>C NP_787071.2:p.Ala508Pro
NM_175875.5:c.1522G>C MANE Select NP_787071.3:p.Ala508Pro
Search 100 bp 5'
Search 100 bp 3'