Canonical Allele Identifier: CA9520699
Gene: SIX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1628024
ClinVar RCV Id: RCV002125139 RCV003895903
dbSNP Id: rs760311721
ExAC: 19:46270224 G / A
gnomAD v2: 19-46270224-G-A
gnomAD v3: 19-45766966-G-A
gnomAD v4: 19-45766966-G-A
MyVariant Identifiers: chr19:g.46270224G>A (hg19) chr19:g.45766966G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766966G>A , CM000681.2:g.45766966G>A GRCh38
NC_000019.9:g.46270224G>A , CM000681.1:g.46270224G>A GRCh37
NC_000019.8:g.50962064G>A NCBI36
NG_012745.1:g.7274C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.993C>T MANE Select ENSP00000316842.4:p.Ser331=
ENST00000317578.6:c.993C>T ENSP00000316842.4:p.Ser331=
ENST00000560160.1:c.587-855C>T
ENST00000560168.1:c.*181C>T ENSP00000453189.2:n.*181C>T
ENST00000622857.1:c.16-1004C>T ENSP00000481365.1:n.16-1004C>T
NM_175875.4:c.993C>T NP_787071.2:p.Ser331=
NM_175875.5:c.993C>T MANE Select NP_787071.3:p.Ser331=
Search 100 bp 5'
Search 100 bp 3'